: ae 6 A pation! with complaints of muscle weakness came 2. t9 OPD. Doctor found that he has cardiomyopathy & diagnosed him t0 be a ease of Barth syndrome, where the patient tas mitochondrial dysfunction ‘What isthe defect in this pati A. Caxdiolipin B. Lecithin 7 ©. Lysolecithin D. Cephatia A IS.year old boy, & known case of type 4 DM sgoes the following test for the detection of KB. A. Rothera’s Test B, Benedivt’s test C.. Soliwanof?’s Test D. Biuret Test Xanthurenie Acid in urine indicates: A. Vitamin B6 deficieney B, Vitamin BI deficiency C. Niacin deficiency D. Vitamin B2 deficioney Which of the fottowin ‘A. Most abundant AA is Phenylalanine is false about collagen: B. Collagen is a type of fibrous protein, which is most abundant of all human proteins CC. Post transtational hydroxylation of proline & lysine D. Triple helix is required for its funetion The base sequence of the strand of DNA used as the template for transeription tas the base sequence GATCTAC. What is the base sequence of RNA products A. CUAGAUG B. GTAGTCC 6. c. GTAGATC D. GUAGAUC INI CET NOV. 2022 (PART-A) z Glycogen phosphorylase is activated direelly or indirectly by’? A. Caleium B, Glucose 6 Phosphate tna 8. D. Glucose Burnt sugar smell of urine iy due to the defect of? A. Phenylalanine hydroxylase B._Isovaleryl CoA dehydrogenase C. Fumarylacetoacctate hydrolase D. Branched chain keto acid dehydrogenase The significance oF HIP shunt are A Sourve of NADPET B. Source of ribose 5 phosphate “ except? Source of acetyl CoA, D.. Usilizes ribose young male with » history of dyslipidemia having ABC-AL mutation presents with the follessing lesion, Identify the diagnosis ? A. Wolman’s Disease B. Gaucher's Disease C.Tangier’s discase D._ Tay Sachs disease Cystic fibrosis iy eaused by which of the Following cletions? A, Tyrosine at S08 B. Phenylalanine at S08 ©. Tiyptophan at 508 D. Lysine at 805 tof? Refsunn's disease is enused by the det A. Beta oxidation of branched chain fatty acid B. Alpha oxidation of branched chain fatty acid C. Omege oxidation of branched chain fatty acid D. Alpha oxidation of dicarboxylic acids Zeltregor ayndrume i caused by the defect of hich of the following organeties? A. Mitochondria B. Lysosomes C Peroxisomes D. Nucleus SARS CoV A. RTPCR aguosis is done by all execpt? Biochemistry asNETH 10" Pome (eston anm) i, "1 8. B, Real time PCR ©. Souther blotting 1D. Immunoassays Se enzyn A. Glutathione reduet nocysteine is present in whieh of the following, B. Glutathione peroxidase C. Thioredoxin peroxidase D. Thioredoxine oxidase 2.3 BPG causes uuntoading of oxygen to disses bbocause: A. Itdeereases ATP production anl hence breaks the links between globin chains B, Itinereases ATP production ©. Binds to the contrat cavity of hemoglobin surrounded by histidine and lysine and favors salt bridge formation D. Inhibits Taut structure formation Identify the left curve, given the fact that the right iult hemoglobin. see 8 i i ‘Myoglobin A B, Fetal hemoglobin C. Carbon monoxide poisoning b. Acidosis False about ‘A. Inereases insulin sensitivity and supports glucose metabolism B. It is ahistone deacetylase and it causes chromatin condensation chi D._ Itis stimulated by ni creases the lifespan Jnamide Chose the right sequence af steps in the conversion of cholesterol to testosterone A, 20, 22 desmolase, 3 -hydroxystervid dohydrogenase 17 alpha hydroxylase, 17,20 lyase B, 3fhydroxysteroid dehydrogenase 17 alpha hydroxylase, 17,20 lyase, 20, 22 desmolase, C. 20, 22 desmolwse, 17,20 lyase, 17 alpha hydroxylase, 3p-hydroxysteroid dehydrogenase D. 17 alpha hydroxylase, — 3p-hydroxysteroid dehydrogenase, 20, 22 desmolase Hrwetosamine (which is used for assessing long fy sglyceraie control in a person with hemoly ed product of A, Glycosaminoglyean B. Urea C. Fructose D. Albumin Which of the following tissues a insulin for glucose uptake A. Liver dependent on B. Pancreas CC. Muscle and adipose tissues D. Placenta dy Is related to whiek of the following, ‘A. Methyl alcoho! B._ Ethyl alcohol ©. Ethylene glyco! D. Hypoglycin Identify the type of in A. Competitive B. Uncompetitive ©. Non competitive D. Suicidal characterized by mousy odor Assertion: PIL Reason: Tyrosine and norepinephrine are not found in PRU ‘A. Both Assertion and Reason are true, and the Reason isthe cortect explanation for the Assertion B. BothAssertion and Reasonare true, but the Reason js not the correct explanation for the Assertion C._ Assertion is te but reason is false D. Assertion ig false but Reason is true,INI CET NOV, 2022 (PART-B) A Clopidogret Heparin 1, Which of the following statement is /are cor id 1 ©. Dicumarol ‘Tim increases with more Cc ‘D. Alteplase 2. Tm decreases with more 6. 0 3. Ten increases with more A: a 4. Norelation GC and A-T pai with Ta NEET PG 2022 Choose the enrseet answer from helow code 1 ‘The fotlowing 4 patient who is eomplai ibeominal distension, thrombocytopenia and deficient in express 2 classes of antibodies as its receptors, ie. IgM and IgD having the same c specificity. This fs due to which of the A. Allelic Exclusion B. Somatic Hypermutation C. Alternative RNA Splicing D. Affinity Maturation 3. True about the action of enhancers in gene expression: A. Recruit chromatin and modify regulatory mechanisms A ucocerebrosi BL Only when in clase conjugation with promoter B.S phingomyelinase region lexosamminidase ©. Only when in upsticam of promoter region Coe D. G-6-phosphatase D. They are very specific to the gene image fs soon in the x oF growth failure and Signs found were neni, bony pain, Whick enzyme is Complex tin Electro ort Chainisinhibited 2, DNA packing is done by? by: Histone A. Cyanide B. Barbiturates Sree C. Phenobarbitone Nucleic acid D. Matonate Helicases ‘Which is not a microctement: paint factory worker working for 20 years A. tron of joiue pain, insormia, —faligue, B. Copper headache, He is found to have anemia ©. Nitrogen ne affected is? D. Mangenese. ‘A. Uroporphyrinogen Ill synthase 6. In the given diagram, identify the drug % marked B._Uroporphyrinogen 1 Synthase by the arrow elena Tit oie x D. Ferrochelatase ta an 4. Complex 4 inhibitor 8? oA, A. Cyanide te wane (RRRE B, Carbon Dioxide C. Oligomyein sa anes D. Antimycin Parca Enzyme detect in MeAralte’s Sel B. Gilucose-6-phosphatase& hick | To The Point (Question Bank) 0, C. Glycogen phosphorylase D. Hexokinase F tuberculosis, on INE for the 12, W of numbness, tingling and ies. What could be vitamin deficiency? A. Vitamin B6 B, Vitamin BIZ © Vitamin BL 13. D. Vitamin BS Cherry ved spots on retina and mental r Gaucher's disease Tay Such's disease 4, A B C. Hunter syndrome D. Krabbe" disease FAD status in body is determ A. Thiamine B. Glutathione reductase C. Hexokinase 15, D. Transketolase ‘eae about Warburg effect? A. Makes cancer cells immortal B, Actobie glycolysis with lactate formation ©. Produce more ATP D. Decrease glucose uptake bd ‘A Mediterranean person didn't reecive primaquine, Which pathway is affected by GOPD enzyme doticiency? A. HIMP pathway B. Glycolysis CC. Gluconeogenesis in D. Kreb eyele True about telomeres and telomeras A. Increased telomere length with sgeing B, Gradually decreasing length of telomeres with ageing C. Telomeres have eoding sequences D, Telomerase is found in somatic cells When a codon is changed to stop codon, then itis: A. Frameshift mutation B, Nonsense mutation ©. Missense Matation b. s lent Mutation Condition shown below is due to whieh vitamin deficiency? A. Vitamin A B, Vitamin B2 C. Vitamin C D. Vitamin k Rice water diarrhoea, intoxication is due to which ganglioside? ‘A, GMGI ganglioside receptor B. GM-2 ganglioside receptor C. GM-3 ganglioside receptor D. GD-la ganglioside receptor Mechanistn of aetion of botulinum toxin fs: A. Inhibits NM receptor B. Inhibits reuptake of acetylcholine C. Inhibits release of acetylcholine ftom lower motor D. Inhibits synthesis of acetyl choline Fatty acid ansport mitochondrial membrane is vit? throagit A. Camitine B, Acyl carrier protein CC. Cholesterol transporter D. LAT A woman on anti-depressants presents with bleeding, She gives # history of bulky stools which sticks {0 the pan. Which of the follow deficiency can cause bleeding in this condition? A. Vitamin A B. Vitamin D 1, hana ytnesetpotor dial PP C. Vitamin & D. Vitemin kK dentify the acid base disorder in a patient with the following values: pH 7.2 and pCO, ~ 80mm Hy A. Metabolic acidosis B. Metabolic alkalosis ©. Respiratory acide D._ Respiratory alkalosis Which of the following has an autosomal recessive icra oF inheritance? A. Achondroplasia B. Huntington's disease C. Cystic fibrosis D. Familial Hypercholesterolemia INI CET MAY 2022 In MSUD (Maple Syrup U Ue Following is not resteieted: ne disorder) whieh of A. Methionine B. Valine Leucine D. Isoleucine sgenotic cole. Which vitamin is condition: jucuscd fordicentric chromosomes: A. Gbanding B. NOR ©. Chanding. Gd-NTPS in Sanger’s Sequencing technique uses? A. Its fluorescence B, DNA polymerization C. Termination of polymerase D._ Removal of primer ' A. Arachidonic acid ‘osanoids are formed! trom: B, Platelet aggregation C4 fused rings D. Arginine 6. 8 Deamination of methylated eytosine will form: A. Uracil BG © Adenine D. Thymine {dently the type of inhibitor in the graph? A, Competitive inhibitor B._Non-competitive inhibitor C._ Allosteric inhibitor D. Uncomp ive inhibitor You aro expected to produce a protein of interest Areanige the Following steps in a sequen Lysis of bacterial cetl . incorporating gene of interest into bacteria SDS-PAGE 4. Hybridization © Protein elution/extraction f Expression of protein Select the correct answer from the given belose cele AL abode B bedate ©. bdecet D, bhacde EB ebader DNA-Protein Interactions ean he studied hy using: A. DNA fingerprinting B,__DNA footprinting C. Northern Bloting D.BLISA Which of the following is correctly matehe 8, Oxygen: Simple Diffusion b, Glucose: facilitated diffusion and Na-dependent ©. Calcium: Active transport Nai Secondary Active uansport Biochemistry [EE amemegoo 780 | Point (Question Bank) _ Select the correct answer fr below code: A. Only bis correct B. Ifeande are correct ©. Ifa, bande are conect D, a,b,c, & dare comect Which of the Fallowing is false ve genome project? ‘A. Collaboration of many countries B, 20000 total genes were identified C. Ituses modem sequencing techniques D. It took 2 years to discover rainy the Haman INI CET NOV. 2021 ‘Which of the follow an amphipathic lipid? A, Triglyceride B. Phospholipids C. Glycotipids D._ Sphingolipids ich of the following is not Glucogenic? w ‘A. Oxaloncetie acid B. c. Acetyl CoA Lactate D. Pyruvate Wobble hypothesis Is due to whieh propert codon? A. Degeneracy C. Universality B. Ambiguosity D. Commaless Which is more appropriate for the quantitative analysis of viral RNA genome A. Real time PCR B. Conventional PCR with restriction fragment Jength pair technique c-REPCR 1D. REPCR followed by real time PCR 1m of CRISPR C What is the repair mech A, Base excision repair B, Nucleotide excision repair CC. Nonhomologous end joining 1D. Mismatch repair ‘Which of the Followi DNA 8 Higher chance of mutation st compared 10 nuclear genome grue about mitochondriat % b. Single stranded circular DNA, € Mitochondrial codons are slightly different from nuclear DNA codons 4, Mitochondrial DNA encodes for all ETC complex. protein ‘¢, Has around 16,000 base pairs Seleet the correct answer from the given below ‘code: A. a&bonly B. a,b&conly © ab&donly D. ae&eonly false in advanced liver |A, Oxidative decarboxylation of alpha ketogltarate B. Increase synthesis of glutamate and glutamine from alpha-Ketoglutarate C. Decreased ATP synthesis oocurs D. Hyperammonemia {A patient eame fo the hospital who has not eaten ws tests anything for vo days. Whieh of the fallo will be positive? A. AUA,BandC B. Both Band C C. Only b D. Only Most preferred chromatography for HbA te ‘A. Blectrophoresis B, lon exchange chromatography C. Affinity chromatography D. fmmuno turbidimetry NEET PG 2021 had a meal at § pm and recorded blood ‘ow the next day whiel was 180 mg/ a, What's the source of glucose in this patient? A, Dietary Glucose B._ Hepatic Gluconcogenesis C. Hepatic Glyeogenolysis 6fom mplex orate eater s tests blood 0 mg a 2 oF the following associated ? the most common repair defect A. Mismatch repair B. Nucleotide excision repair C. Base excision repair D. Homologous recombination repair is multienrzyme complex converts Pyruvate to Acetyl CoA. Identity EE and £2: PyroatesCoRsNA’—e Acery-Cons CO, NADH yao apn Non. free ‘ 8 * engscoa ‘riggooon ‘A, El: Pyruvate dehydrogenase £2: Dihydrolipeyl 8 ‘Transacetylase B. El: Pyruvate Decarboxylase E2; Dihydrotipoyl dehydrogenase ©. Bl: Pyruvate carboxylase E2: Dihydrolipoyl ‘Transacetylase D. El: Pyruvate dehydrogenase E2: Dihydrolipoyl dehydrogenase A 35-year old Farmer on a maize diet with rrhea, dementia and dermatitis, Which Vitainin deficient in this patient? Thiamine Riboflavin Niacin D. Pyridoxine Which of the following vitamins needs to be upplied in the diet of patients with Cystathionine op > beta synthase defect? AL Cysteine B. Methionine C. Serine D. Homocysteine ‘A pationt has multiple tendon xanthomas. Serum — 49, cholesterol 398 mg/dl) & LDL (220 mg/d were Found to be raised. Statins were given to this patient, What is the diagnosis? A. Lipoproteis B. Fam lipase deficiency lial hypercholesterofemia. Biochemistry C.Tangier’s disease D. Huntington's disease A patient presented with weakness, anemia, bony pain & hepatosplenomegaly. A histotog is shown with eells in boue m following enzymes Is deficient? re Glucose 6 phosphatase Giluco-Cerebrosidase Hexosaminidase A Beta Galactosidase pagep isparency of corneal endothelium is maintained A. Heparan sulfate B. Keratan sulfate ©. Chondroitin sulfate D. Hyaluronic acid Which vitamin deticioney causes th A, Thiamine B, Niacin c. Zine D. Pyridoxine k urine, ‘What's Dlackens on exposure to 2 ;ymne deteet In this ‘A, Fumarylacetoacetate hydrolase B. Di Hydroxy Phenyl Acetate DioxygenaseC. Homogentisate Dehydrogenase D. Phenylalanine hydroxylase In an olated mitochondria, im @ medium containiag Succinate, Fumarate, ADP and Pi, ATPS wore produced. Later a compound was added, and oxidative phosphorylation was decreased. What's that compound? A. Oligomycin ——B._2,4 dinitrophenot C.Ankimycin D. Rotenone A patient presents with a history of Night blindness, corneal drying and Bitot’s spots. Which of the following is Found in this patient? A. Keratosis pilaris rubra B. Eczema C. Phrynoderma D._ Iehthyosis A year old boy presented with developmental delay, recurrent chest infections and worsening bony pain. His serum PTH was normal, Caleinm ‘vas normal and phosphate was low. There is no response to Vitamin D. The probable diagnosis is: A. Nutritional rickets B, X-linked hypophosphatemic rickets C. Vitamin D dependent rickets type f D. Vitamin D dependent rickets type It A child is presented with loose stools muttipte dimes, He is managed with ORS. Glucose in ORS is absorbed via which transporter in GIT A. SGLT B. SGLT2 c. GLUT D. GLUT? _INI CET JULY 2021 REC ses whieh of the following substances du {asting/starvation? A. Glucose B, Ketones ©. Aminoacids ——D. Fatty Acid RNA‘ acts through? A. Knock out B, Knock down CC. Knock in D. Knock up Methyl tetrahydrofolate accumulation and functional defies ddoficieney of oF folate is seen in the A. Folie acid B. VitB,, c VitB, D. vitB, NEET PG 2020 Which is insofuble in water? A. Lignin B. Inulin ©. Amylose D, Chitin 6. 1 ic oxide is synthesized from A. Ornithine B, Alanine C. Aspatticacid DD, Larginine Deficioney of which of the following, ‘A. Riboflavin deficiency B. Vitamin B12 deficiency C. Niacin deficiency D. Vitamin € defi Urine turns black on standing in ease of A. Homogemtisate oxidase deficiency — alkapronuria, B, Cystathionine beta synthase deficiency homocystinuria ©. Tyrosinase deficiency ~ Albinism D. Phenylalanine hydroxylase deficiency phenyiketonusia What is the mucopolysaecharide/proteoglycau present in glomerular basement membre: A. Heparan sulfate B, Chondroitin sutfate C. Hyaluronie acid D. Keratan suite h enzyme is active during low insulin glucagon A. Hexokinase B. Glucokinase CC. Glucose 6 phosphatase D._ Phosphofuctokinase. Whi out the stewets of the follossing is tru ion of proteins? A. Tentiary structure is three dimensional B. Primaty, secondary and tertiary structures are destroyed by denaturation C. Secondary structure is stabilised by disulphide bonds D. Secondary and Tertiary structure depends upon amino acid sequence 40.Fie yen ngon ide 8 0. hyper segmented nuclei and atrophic gs ‘A. Vitamin BI2 deficiency B, Folate tap C. Riboflavin deficiency D. Vitamin C deficiency Which of the following binds fo the tyrosine Kinase receptors, A. Insulin B, Glucagon © Leptin D. Thyroxine In Non-competitive inhibition A. Vmax decreases, Km remains constant B, Vmax remains same, Km increases €. Both Vmax and Km are decreased D, Kim is usually increased, Vmax is reduced Aauino acid which absorbs UV tight at 280 nae ‘A. Tryptophan B. Histidine CC. Aspartate D. Ornithine Apo 48 isa remnant of A. RNAcditing B. RNA interference ©. RNA splicing D. DNA translocation Adenosine is 28%, what is the % oF eytosine A. 20% B. 26% c. 48%, D. 56% INI CET NOV. 2020 Enzymes used in gluconeogenesis are: a Hexokinase b. PEPCK Pyruvate carboxylase 4. Glu phosphatase Pyruvate kinase nthe gi Select the correct answer fh ‘code: A, a&bonly B. a,b&conly ©. be&donly D. ae&eonly Biochemistry PER steps are A. Denaturation, annealing, elongation Annealing, denaturation, ligation C._ Ligation, denaturation, annealing 1D. Denatutation,anneating, elongation, hybridization A person of $0 kg weight, his CO, & O, levels were measured from spirometry ay CO, = 200 al, ©. 0 mah, What is RO int A 4 C08 A. Corbohydra C. Protein 8, RNAsplicing. b. Gone sequencing ©. Gene silencing 4. Chromatin remodeling Base excision repair elect the correct answer from the given betow code: A. a Sbonly B, o,b& only C. ab&eonly D. ac&donly Which represents highest free energy change in 3 a en wa a ce bp 1 tnsmvene tripe ty B._asine iy oDNA pon Manis of NA D. fanny netrt7ea a The Point (Question Bank) te Which B12 depencte acid metabolisin? 2. Methyl malonyl CoA isomerase b, Homocysteine synthase ¢. Folate reductase 4, Methionine synthase © Beta hydroxy butyrate symthase Selvct the correct answer from the given below code: A, a&donly B. ab&conly C. ab&eonly 13. D. ac&donly f formation of Ketone bodies or ketosis in type I Diabetes: Acetyl CoA not participating in TCA cycle b, Increased activity of bete-hydroxy butyrate dehydrogenase “4 Mobilization from Adipose tissue Decreased fatty acid oxidation Select the correct answer from the given helow odes A, a& bonly B. ab&conly 4 C. ab&donly D. ac&donly (A patient presented with paftor and cyanosis with ‘This condition is most probably due to: 3 A. Folic acid deficiency B. Iron doficieney anemia C. Vitamin B,, deficiency D. Thalassemia 4 White passing through PC, which substance will A. Amino acid B, Glucose ©. Chloride D. Bicarbonate nzymieis involved in amino 12, High anion gap acidosis necurs i a, Renal tubular acidosis b. Diabetic ketoacidosis Select the correet answer from the given below code: A. a& only B. d,e&donly C. ab&donly D. ac&donly ‘Whieh enzy A. Keat © 20/8e0, Km= 10 micromole B. Keat = S0/sec, Km = 200 micromole ©. Keat =200/se0, Km= 2 micromote D._ Keat=200/se0, Km~ 4 mieromole Normality of 2. mM of HCI is To smality of mM of 12504 Equal B. Two times C. Threetimes —D. Fourtimes AIIMS JUNE 2020 in both glycolysis and sl A B. CC. Phosphoglycerate kinase D. Pynivate Kinase Vitamin deficiency causing A. Thiamine B. Pyridoxine ©. Riboflavin D._ Pantothenic Acid Calories from TPN: 100 mg dextrose, 3 acids & 40 ang Lipids mig Amino AL 840. B. $30 C680 D. 880 Which of the following is aot an enzyme cholesterol biosynthesis? A. HMG CoA reductase B,_HMG CoA lyase C._TIMG CoA synthase D. Thiolase 6 0.ow To 2. and & %. 10, ein Kidney-oLiver-+ Skin Skin->Kidney--Liver Liver—-SkinKidney Correot about given yacutainer is? A. EDTA B. Nak ©. Heparin D. Clot activator DNA Methylation is not related with ‘A. Mismatch repair B, DNA Replication C. Gene silencing D. Capping ich value is not required to measure Crea Urine creatinine in 24 hour ‘Serum creatinine ‘Volume of Serum passing through kidney in 24 hour D, 24 hurine volume DICUMAROL int Koy? A. Competitive Inhibition B, Non-compettive Inibition ©. Suicide Inhibition D. Allosteric inhibition Ammonia is detoxified in by . by leading to formation of? A c Glutamine B. Urea Alanine D. Arginine ‘Glucose is stored in Glycogen form, why? A B, © D. Compact Can be reduced ftom multiple branches/ends Can be stored at multiple sites Con provide glucose as much as needed and when needed for | week bn urea eyele ‘Phe given below clin Biochemistry | AIIMS NOV. 2019 isorder, which of th L-carnitine B._Phenylbatyrate Isoleucine D. Glutamate detiviency of: A. Cs Which of the following hinds mR in eukaryot Which of the following hubricant and protective acti ‘Tryptophan BL Phenylamine Cysteine D. Glutamine Poly A tail IRNA ‘7-methylguanosine cap Shine dalgrino sequence glycoprotein A. Macin B. Immunoglobulin C. Collagen D. Albumin Allof the following are correct about Protenglyeans except A. Chondtoitin sulphate is a proteoglycans B, Made of protein and sugar MPS C. Carries negative charge D. Doesn't hold water A c Which replacement of amino acid does not alter ts normal funetion? A B ©. D. AaccTT B, AAGAAG TACGAG, D. GAGAGG Glutamine replaced by arginine Glutamine replaced by alanine Glutamine replaced by glutamate Glutamine replaced by asparagine fallow e enn be used (0 reduce the levels of al Features occurs duet A with ribose ase will aet on which of theEa | To Tho Point (Question Bank) 4 9 system, wh rae editing? ch repair mechani used for A. Homologous repair B, Non homologous end repair C,. Mismatch repair D. Nucleotide excision repair Assertion: Most common hematological disorder in chromie toad poisoning is eosinophilia, Reason; Chronic lead poisoning inhibits the enzyme ALA dehydratase. ‘A. Both Assertion and Reason are independently true/correet statements and the Reason is. the ‘correct explanation for the Assertion B, Both Assertion and Reason are independently tae/eorreet statements, but the Reason is not the correct explanation for the Assertion C. Assertion is independently a true/correct statement, but the Reason is independently a false/incorrect statement D, Assertion is independently a false/incorrect statement, but the Reason is independently true! correct statement E, Both Assertion and Reason are independently false/ incorrect statements AIIMS MAY 2019 Which of the followin divection? doesn’t happen in 5° to A. Transcription B. DNA replication DNA repair D. RNAE&iting Chimeric DNA is A. Paternity test B. Maternity test C._ Personal identification 1D. Organ transplantation bodybuilder starts eating eaw eggs for prot developed fatigue on moderate exercise. The doctor prescribes «vitamin, Which enzyme is deficient in him? A, Glucose 6 Phosphatase B. Pyruvate Carboxylase ©. PEPCK D._ Glycogen Phosphorylase Which ofthe following shows functional assessment Ori deticieney: A, RBC Transketolase B. RBC Glutathione reductase C.. Serum Thiamine levels D. RBC Glutathione Peroxidase 6. & ys DNA is insequently Reason (Rt): Retrovirus show reverse transeriptase ff central dogma where RNA Is first converted to DNA which is then transcribed to RNA, which is subsequently translated into proteins ‘A. Both Assertion and Reasons are independently trae and the Reason is the correct explanation for the Assertion. 1B. Both Assertion and Reasons are independently fue, but the Reason is not the correct explanation for the Assertion ©. Assertion is independ is independently a false D. Assertion s independently false, but the Reasons is independently a true BE, Both Assertion and Reasons are independently ly truo, but the Reasons false Which modification will not lead to change in biological netivity of the hes A. Interchange of AL & AS B, Interchange of B29 and B30 C.Intorchange of AS & AG D, Breaking disulphide linkages the following is false regar energy? reducing A. Decreased entropy B, Desolvation of active site ©. Conformational change in the active site of enzyme ator ater the time of binding of substrate toenzyme, D. Complementarity of active site of enzyme and substrate The graph shown below is the ve of a biochemical compound. Which of the following statement is true? 10H 10. 12. |A is ently ptase eal to his lontly on for dently pation sons ge sure? lucing ste of strate ne and ve of lowing, 10. 3, A. Themaxinmum buffering eapacity of he compound is represented by points A and B. B. The points A and B represent the range of ‘maximum ionization of the carboxyl and arnino group C._The compound has three ionizable side chains D. The compound has one ionizable group Which of the following TCA eyele intermediate is a part of heme metabotisi? A. Alpha ketoglutarate B. Fumarate C. Suceinyl CoA D. Malate The catalytic efficiency of enzyme is best expressed jy which of the following kinetic constants: A. KeatiKim B. KnvKeat C. KrwiKa D, Karke Type of mutation seen in sickle cell anaemia: ‘A. Insertion B. Deletion C._ Point mutation D. Frameshift mutations n which of the inheritance, if father is alfected no oflspring is affected, but if mother affected, all offepring alfected? A. Mitochondrial B._ X linked recessive C. Autosomal dominant D. Autosomal recessive Hepeidin decreases iro sorption by inhibiting? ‘A. Divalent metal transporter B. Hephaestin C. Ferroportin D. Transferrin Which is true regarding the impact of the following, c diseases? A. Vitamin E deficiency will not cause cardiac ischemia’ problems B, Vitamin C deficiency can cause impaired cardiac health C. Folete has proven role in preventing cardiae illness D. Vitamin E worsens CAD _NEET PG 2019 fant presents with hypotonia and seirures. It confirmed to be cerebroliepatorenal syndrome, Which of the following is necumatated in the brain in cerebrohepatorensl syndrome? 6. AL Glucose B. Long chain fatty acid C. Lactic acid D. Triglycerides Anwnonia causes depletion of which of the following, in TCA eyete? A. Oxaloacetate —B,Alpha-Keeto glutarate C. Fumarate D. Malate Defect in Menke disease: A. Lysyl hydroxylase BL Lysyl oxidase C.. Prolyl hydroxylase D. Prolyl oxidase Glutamine is increased in CSF, blood & rine in which defve A. Argininosuccinate synthetase B. OTC ccs. D. Amino acid requ ‘norepinephrine to epinephrine: A. c Creatinine, No & urea are synthesized fr amino acid? AL Arginine B. Citrultine C. Aspattate D. Glycine Which of the following is not a dietary fiber? A. Inulin B. Cellulose ©. Peetin D. Gum Which of the following is not the source of cytosolic NADPH: A. Ibocitrate dehydrogenase B. ATP citrate lyase C. Malie enzyme D. GePD Which of the following is increased in LCAT deficiency? A. HDL B. LDL c. VEDL D. Chylomieron “True regarding mitachondrial DNA is A. Linear double stranded B. Inherited from mother C. Low mutation rate 1D. All respiratory proteins are synthesized within Biochemistry Arginase od for conversion of Lysine B. Phenylalanine Methionine. Tryptophan which mitochondria itselfae 4 FT| To The Point (Question Bank) 1s, 0, 20. Prat synthesized A. Albumin B._ Immunoglobali C._ Plasma enzymes 1D. Acute phase proteins Vitamin A is stored in: A. Kupfercells —B._Hepatocytes C. Meocalls D. Endothelial cells of liver {in Wilson disease there is loss urinary exeretion of A. Phosphorous B. Methyl-Histidin CC. Phospho tyrosine D.. Serine A year old aleohotic malnourished patient presented to hospital with respiratory distress. fe, Patient had edema, hhyperten muratong the left sternal edge. Bilateral murmur slong the tel st L evepitations were felt of congestive high output care sass made, Which vitamin is delieiont? As Vitamin BL B, Vitamin C. Vitamin 2D, Vitomin BS maximum in skin: B. Type Il D. Type IV type of eollag A. ‘Typel ©. Type ttt In type { diabetes, which of the following is trte:= A. Increased lipolysis B. Decreased protein cataboli C. Decreased hepatic glucose ontput D. Increase glucose uptake Amino aetd linking Kreb's eyele & urea eyeler A. Aspartate B. Fumarate C. Alanine D. Arginine of LPL deficiency, which of the following, ase after a fat rielt A. Chylomicron —B. HDL. C. Lipoprotein (a), LDL ‘Which of the following is not a Ribozyme! A. ‘Transpeptidase B, Ribonuclease P C._ Peptidyl transferase D. Poly A polymerase Retinitis pigmentosa p A. DHA tients dow't have: B. Bicosapentaenoic acid ©. Arachidonic acid D. Timnodonic acid ma Which amino acid is used (o synthesis Nitric oxide? A. Glycine B. Arginine ©. Tyrosine D.. Histidi 'ype-t hyperlipoproteinemia fs characterized bys A. Blevated LDL B. Elevated lipoprotein lipase ©. Blevated cholesterol D, Elevated chylomicrons ATIMS NOV. 2018 Respiratory quotient after heavy carboby ‘neat Ad B12 ©. 08 D. 07 Which of the following is a biomarker of alcoholic hepatit AL ALP B. AST © LDH cot North A. DNA B. RNA C.. Protein D. DNA protein interaction During exercise, which is the most rapid way fo synthesize ATP" ‘A. Glycogenolysis B. Glycolysis C. Phosphocreatine D. TCAcyele In noncompetitive antagonism, which of the following is correct? AL Vy decreases B. K, decreases ©. No change in Vu, D. Both K,, and V,,, increase "There isa paticnt with type I diabetes meltitus anid complains of polyuria, Which of the following will My In bis body? |, Glycogenesis in muscle B__ Increased protein synthesis C._ Increased conversion of fatty acid to acetyl CoA D, Decreased cholesterol synthesis 1 child with eerebrohepatorenal syndy hypotonia and hepatomegaly, the probable biochemical defect is accummulat AL Pyruvate B. Short chain fatty acidsyarate tion ray to the CoA ne and obable 2» c. D. (Method of transport of glucose in the intests Which of th A patient with € (11/22) transtoe Very long chain fatty acids Acetyl COA Primary active transport Secondary active transport ‘Simple diffusion Counter transport _AIIMS MAY 2018 not requires” capping? IRNA of alanine U6 snRNA mRNA for histone siRNA fon ean be best studied by: A B. c D. FISH Conventional karyotyping Microarray DNA sequencing Which of the following does not favo ranuatin due (© changes vee sat CpG istandls in DNA? ‘A. Methylation B. Phosphorylation Alkylation 1D. Sumoylation Amiddleaged woman with fissures in mouth sensation, peripheral neuropathy. showed reduced glutathione reductase ‘Which vitamin deficiency causes this? A. Vitamin BL B. Vitamin B2 C. ViteminB6 =D. Vitamin B12 von absorption increases by whieh vitamin A. Vitamin A B. Vitumin C. Thiarnin D. Riboflavin Which of the following enzyme activity des fasting? A, Hormone sensitive lipase B, Glycogen Phosphorylase C. Acetyl CoA Carboxylase cealf muscles ‘amount of gly iusete, What is the most Ukely enzyme del A B. c D. Phosphofiuctokinase 1 nale patient a sxercise. On was found to be pr swith pain i iopsy, excessive sent it the y? Phosphorylase Enzyme Phosphofructokinase 1 Muscle Debranching enzyme Glucose 6 Phosphatase 10. uM Fluoride ret imetabolie patho A. TCAeyele ase from fluorogectate inbbits which B. Gilycolytic pathway C.Oxidative Phosphorylation D. BTC Vitamin K in ils coenzyme torm is regenerated by whiel Bauzyme? A. Pyruvate Carboxylase B. Epoxide reductase C. Glutathione reductase D. Dihydrofolate reductase [An infant with blue eyes, Ionde hair and! fait ski presented to the OPD with a history of vomit and malnutrition, On investigation the Guthrie test ‘was Found to be positive. AU ave true rewarding this disense exeept: ‘A, Due to PAH enzyme defect B. White patch of hair due to tryptophan deficiency C. Phenyl acetate positive in urine D. Mental retardation is present A. patient presented with Inctose Intolerance, Which of the following food causes least itoleraneo? A. Yogurt B. Ice cream C Skimmed milk Best method fo measure HbAte? A. Isoelectric focusing, D. Powdered milk B. Affinity chromatography ©. Ton exchange chromatography D, Electrophoresis Vitamin C can’t be syn deficiency af which enzyme? A. L-gulonolactone oxidase B. Xylitol reductase C._ Pyruvate dehydrogenase D. UDP ghicose dehydrogenase Klenow fragment fis all of the following activities except? A. 5°-3" exonuclease activity B. 3-5" exonuclease activity C.$°.3" polymerase activity D. AlloftheseSEREETI| o Te Poin (ave 15, 16. 1 Identify the phenomenon shown below? at Pact roy LacZ poundpann p-einiosioe A. Complementatio B, Transformation C. Translation D. Yeast hybrid process Which Technique is Based on RNA? A. Next generation sequencing B. RTPCR C. Western blot D.. Sanger’s technique Inareaetion substrate isavaitablein a concentration that is 1000 times the Km value of the enzyme. After 9 minutes of reaction, | % substrate is converted 10 product (12 microgram/ml). If the concentration fof the enzyme is changed to 1/3 and co fof substrate is doubled. What is the ti to convert the fo the same ‘product, Le, 12 microgeams/mt? B. 4.5 minutes A, Sminutes ©. 27 minutes D. 13.5 minates best investigation for Metabolic disorders is? A. Western blot 1B, Tandem mass spectrometry c. PCR D. Gel electrophoresis NEET PG 2018 Enzyme deficiency in (yrosinosis A. pHPP dehydrogenase B Tyrosine ligase CC. Fumarylacetoacetate hydrolase D. Tyrosine transaminase product of fatty acid synthesis ‘A. Palmiticacid —B. Arachidonic acid C. Oleic acid 1D, Glutamic acid than syndrome is caused due ¢o defickency HGPRT A. B. ‘Tyrosine hydroxylase ©. Xanthine oxidase D. Uricase To avoid fish odor syndrome, what to be avoided the food: A. Pantothenicacid B. Choline C. Biotin D. Pyridoxine VINA is exereted in urine in which condition’ A. Pheochromocytoma B. Alkapionuria ©. Adrenal adenoma D. Addison's disease Galactosemia is possible due to def following enzyme except? ‘A. Galactose-I-phosphate uridylyltransferase B. HGPRT C. Galactokinase 1D. Bpimerase .d fibvinopeptide Bare acidic ‘of which amine acids in its Fibrinopeptide 4 due to the pres yeture: |A.. Serine and threonine 'B, Glutamate and aspartate ©. D. Histidine and lysine Glutamine and valine+ end led in of the acidic its Biochemistry _ Auswers with Explanations RECENT PATTERN QUESTIONS 2023 (2) Ans. B. Glucnserebrosidase Gaucher's disease © This AR disorder and occurs due to def Clinical featore © Bony pain, pathol fracture. «No Mental Retardation (as beta-glucosylceramide is not present inthe brain) + Hepatosplenomegaly present, CHastiatd + Lange amounts of glucosylceramide accumulated in macrophages causing: Eecenttic nucleus and Cytoplnsm's ‘Crumpled tissue paper appearance or wrinkled appearance tna) ‘Type of Gaucher haracteristies Tavolvement of Newous | Severity Diseuse System ‘Type! Most common Not Affected ‘Vatiable milder than Type 2 oF 3 ‘Type? Severe for ‘Typically Affected Fatal in early childhood Intermediate soverity botween ses Type 3 type | and Type? ‘Cane Affected Intermediate severity progressive. Tnlargement ofthe liver and spleen (Hepatosp lenomegaly) isa hallmark feature of Gaucher disease. ‘Treatment: + Treatment includes enzyme replacement therapy (ERT) to supplement the deficient enzyme (alucocetebrosidase) and reduce the buildup of ghicocercbroside Cupaseuuens © Option A. Giluicase-6-phosphatase: Is deficient in Von Gierke disease (Ia),C/F includes glycogen accumulation in liver and renal tubule cells, hypoglycaemia, lactic academia, ketosis and hyperlipidemia, © Option C. Hexosaminidase A and B deficiency causes Sandhoft’s disease with c/f: Neurological deficit and MR with cherry ed spot. Its a lysosomal storage disorder and is caused by mutations in the HEXB gene, § © Option D. alpha galactosidase Deficiency eauses Fabry disease,Diagnosis of Fabry disease invotves genetic {esting to confirm the presence of GLA gene mutations and enzyme activity testing to measure a-GAL A levels. Reference: Harper's illustrated biochemistry, 31st Edition, Page No-75 2 Ans. A. Recommended dietary allowance “The RDA is the average daily dietary intake level that meets the nutrient requirements of neerly all healthy persons of a specific sex, age, life stage, or paysiologie condition (eg, pregnancy or lactation)”. Gicet + Thespecific RDAs foreach nutrient depend on actors such as age, sex life stage, an in some cases, individual health conditions or dietary requirements, For example, the RDA for vitamin D may vary depending on age ‘and whether a person is pregnant of lactating. «Tfsoineoite takes less than 2 standard deviations of estimated average intake he/she is prone for deficiency, To “sire the optimum intake, extra allowance of 2 standard deviation is added to the tecommendationRefere ‘© Option D: Dose allowance” typically refers to the maximum amount of exposure to a particular substance or radiation that a person can safely receive without experiencing harmful effects, The specific dose allowance will depend on the substance or radiation in question, as well asthe individual's age, health status, and other factors, Park’s texthook of preventive and social medicine,26th Edition, Page No-721,728 Ans. 1, Niacin deficiency + Pellagra is clinical conclition due to the deficiency phan, as we ‘Symptoms of pellagea: © Dermatitis: n early stages, bright red erythema occurs in feet, ankles, and face, Increased pigmentation around the neck is known as Casal’s neckiace. © Diarrhea, © Dementia, delirium, irritability, inability to concentrate and poor memory, ataxia, and spasticity are seen Cine Deficiency from excess of polished rice ean cause beriberi and in chronic alooholies © Wernicke-K drome, which i characterized by loss of memory, lackadaisical behavior, and @ continuous rhythmic movement ofthe eyeball «Option D. Riboflavin deficiency; C/F are limited to skin and mucous membranes. It includes plossiti, magenta cofoured tongue, cetloss, angilar stomatitis and cfeumcomeal Congestion Reference: Harper's, Ilustrated Biochemistry: 30" Edition, Page No. 550, 557, Reference: Lippincott Illustrated Reviews: Biochemistry, 7th Edition, Page No. 380. 4 Ans. A." © Chronic alcoholics are at risk for thiamine deficieney, which play a role in the incoordination (ataxia) and psychosis that can become chronic (Wernicke-Korsakoff syndrome). » The thiamine deficiency produces relative deficiency of the pyruvate dehydrogenase complex, eifiaielilo © Option B: Riboflavin deficiency: C/F ac limited to skin and mucous membranes. Tt includes glossiti, magenta coloured tongue, chellosis, angular stomatitis and circumcorneal congestion. © Option C: Niacin deficiency causes Pellagra, a condition associated with niacin deficiency, leads to diarrhea, dermatitis, and dementia © Option D: Vitamin BI: Demyolination, Subacute combined degener deficiency symptoms include Megaloblastic anemia, Homocystinuria, ion and Achlorhydia, Reference: Harper's illustrated biochemistry, 31st Edition, Page No-534 5. Ans. A. Biotin Explanation: Biotin, also known as vitamin B7, is essential for healthy skin, hat, and nails, as well as for the metabolism of carbohydrates, fats, and proteins, When a baby lacks sulicient biotin, itcan result in 2 condition known as biotin deficiency or biotinidase deficiency. Cita ‘= Biotin deficiency. can manifest with various symptoms, including hair loss, skin rashes, dermatitis, developmental delays, muscle weakness, and seizures. In infants, hair loss may be one of the noticeable signs. nidase deficiency: This is a genetic disorder that impairs the body’s ability to recycle biotin ‘© Dietary insufficiency: In rare eases, babies may not receive an adequate amount of biotin through breast milk. ; : ; Refer a, ‘ OTHor Formula, although this is uncommon duc tothe presence of biotin ia many foods * Diagnosis typically involves blood tests to measure biotin levels or enzyme activity. Genetic testing may be ‘conducted iF biotinidase deficiency is suspected, © Biotin deficiency is treated with biotin supplementation. including hair loss, as biotin supports healthy hair groveth Cee elute ‘Option B.Thiamine eatmont leads to the resolution of symptoms, © Thiamine deficiency can lead toa condition known as beriberi. Beri-Bes primarily affects the nervous sy ad cardiovascular system, ot Option C.Riboflavin The symptoms of riboflavin deficieney can vary and may include + Cracked and red lips (cheilosis) ¢ Sore taroat and inflammation of the lining of the mouth (angutar stomatitis) + Red, itchy, and inflamed tongue (magenta tongue) + Dry and sealy skin xia ‘© Inflammation and redness ofthe lining ofthe eyes (photophobia) + Fatigue Nervous system symptoms (rare, such ss numbness and tingling in the extremities Option D.Pyridoxine tis, + Symptoms of Pyridoxine Deficiency: © Dermatitis * Glossitis (inflammation of the tongue) + Depression and iritability, + Confusion and cognitive i + Neurological symptoms, such as nuembess anc! tingling inthe extremities (peripheral neuropathy. trated biochemistry, 31st Edition, Page No-538,539 ae jrment Reference: Harper’s ill 6. Ans. A. Increase activity of Hormone sensitive lipase Insulin is released in Fed state. So low is, activity of HSL. a fieckaaes ‘+ nsutin activates all anabolic pathways enemies i, HMD, Glycogenesis, ia ‘TG syathesi, Lipoprote Lipase enzyine. EXCEPTION: tusol : ic. Glyeolysis & Link reaction, * Glucagoiaetivaies all catabolic pathways enzymes ie. Glycogenolysis, beta-oxidation of fatty acids, Giiconeogenesis, Ketone body synthesis, Ketone body atilization and Hormone sensitive lipase. or the OTHER OPTION kno * Option B.lncrease activity LPL- When insulin levels ar elevated, such as afer a meal, activity of LPL means Fasting state or catabolic state.it will enlance increase “A synthesis, Cholesterol synthesis, ics {wo catabolic pathway enzyunes stimutates the © Option C.1ncrease glycogenesis - low insilin: glucagon ratio does not support glycogenesis so glycogenesis decreases. rf © Option D.tnerease glycolysis- low insulin: glucagon ratio decreases glycolysis process, 08, Reforence: Harper's illustrated biochemistry, 31st Edition, Page No-338,358,402 tin Te Aus. A. Alkapt * Alkaptonuria is an inborn error of metabolism resulting from homogentisic avid oxidase deficiency, leading to the accumulation of homogentisic acid (HA), an intermediate in the catabolism of tyrosine.mens To The Point (Question Bank) = Manifestations include homogentisie aciduria (the urine contains elevated levels of HA, which is oxidized to 4 dark pigment on standing), arthritis, deposition of black pigment (ochronosis) in cartilage and collagenous tissue. ‘+ Dictary restriction of phenylalanine and tyrosine will be helpful ‘OTHER OPTIONS © Option B: Phenylketonutia: Deficieney of phenylalanine hydroxylase; C/F - mental hyperactivity, tremors & convalsions due to interference of phenylalanine with neurotransmiter synthesis & hypopigmentasion (inhibition of tyrosinase). © Option C: Deficiency of the branched chain ketoacid dehydrogenase results in tiaple syrup urine disease \which causes accumulation of branched chain keto acids in blood, urine, and tissues. The urine has the maple syrup odor with development of metabolic acidosis. retardation, agitation, © Option D: Homocystinuria: It is an inborn error of methionine metabolism caused by 9 deficiency of the ‘enzyme cystathionine beta synthase. I is charaerterized by tall stature, tong limbs,slocation of the lens of the ceyesand predisposition to thromboembolism but it does not lead to black urine Reference: Harper’s illustrated biochemistry, 3tst Edition, Page No-286 Ans. B, Riboflavin Riboflavin deficiency can lead to a range of symptonis and health problems which includes: mucous membrane inflammation,cracked lipsred, itchy, and watery eyes,eardiomegaly,pedal edema and anem Rice ‘© Manifestations are confined to skin and mucous membranes such as Glossitis, Cheilosis, Magenta coloured tongue, Angular stomatitis (inflammation at the comers of mouth), Cireumeorneal yaseularizat iboftavin deficiency. » Proliferation of the bulbar conjunctival capillaries is the earliest sign of «INVESTIGATION: Riboflavin status is most commonly assessed by the glutathione reduetase activity in_ feshlylysedredeells ~ Pee ‘* Treatments include dietary ehanges or supplementation with riboflavin-contain ime mechs ‘Option A. Thiamine deficiency includes: © Dry Beriberi: This form primarily alfeets the tingling sensations, and difficulty walking. + Wet Beriberk: Wet beriberi primarily alfeets the cardiovascular system and can Lead to symptoms like heart palpitations, swelling ofthe legs and feet (edema), and congestive heart failure. + Wernicke-Korsakoff Syndrome: ‘This syndrome combines the symptoms of Wemicke’s encephalopathy, ‘confusion, ataxia, and eye movement abnormalities with Korsakoff syndrome, memory problems, cognitive impairment, and confabulation. = Option C, Pyridoxine deficiency - it includes peripheral neur sxanthurenie aciduria and homocystinuria = Option D. Niacin deficiency plays a crucial role in various bodily functions, including energy production, [DNA repair, and the metabolisi of fas, carbohydrates, and proteins. Niacin defieieney, also called pellagr, ‘at lead to 4 range of symptoms. Reference: Harper's illustrated biocher {foods or supplements srvous system, causing symptoms like muscle weakness, pellagra, mieroeytie hypochromie anemia, ry, 31st Kiition, Page No-528 9, Ans. €. Tay Sachs disease “Tay-Sachs disease, also known as GM2 gangliosidosis or hexosaminidase A deficiency, is rare and severe genetic disorder that primarily affects the nervous system, IL is an autosomal recessive condition, meaning that a child wwust inherit two copies ofthe faulty gene. Eiceaae ‘2 [tis asphingolipidasis or lipid storage disease, due to deficiency ofthe enzyme Hexosaminidase A. ‘© Infants with Tay-Sachs disease typically appear normal at birth but start to show signs and symptoms: a aaa Ree aze (0 between 3 to 6 months of age, Kaely signs include developmental delays, loss of motor skills, exaggerated eNOS surle reactions, and a cherry-red spot in the back of the eye. As the disease progresses, children experience seizures, muscle weakness, iss of vision and hearing, and a gradual decline in cognitive function. © CIP: Mental retardation, Cherry ied spot in the macula but no organomegaly. Progressive deterioration Death by 3-4 years. 2 Tay-Sachs disease is caused by mutations in the HEXA gene, which provides instructions for making an enzyme called hexosaminidase A (Hex-A), Without suificient Hex-A activity, a fatty substance called GM2 On, g rve cells, leading to their dysfunction and eventual death, ple ‘© Option A. Gaucher's disease is an AR dlisonter due to deficiency of beta-glucocerebrosidase, CF: Bony’ pain, pathological Iracture, No MR as beta-glucosyleeramid is not present in the brain, Hepatosplenomegaly the present the © Option B. Hunter Disease: I is 4 mucopolysaccharidosis without any cherry red spot on Macula, © Option D. Niemann-Pick disease: C/F: Severe CNS damage, mental retardation, hepatosplen Cherry ced spot in macula, Death occurs by 2 years of age Reference: Harper's illustrated biochemistry, 31st Edition, Page No-235,603, qarthe 10. Ans. DP With Transketolase ‘When brown rice is polished, rice loses many vitamins and mierals including Vitamin BA through the bran ‘Thiamine Deficieney results in beriberi and in chronic aleoholies cause Wernicke-Korsakol’ syndrome, which is characterized by loss of memory, ancl a continuous rhythmic movement of the eyeballs. Also, Erythrocyte red transketolase activity is reduced which isthe earliest manifestation befare the clinical manifestations. HIGH YIELD © Chronic alcoho! consumption ean interfere with thiamine utiization by the body. Alcoholics are higher risk ‘of thiamine deficiency, condition known as Wernicke-Korsakoff syndrome. > Symptoms of Thiamine Deficiency: The symptoms of thiamine deficiency can vary depending on the severity * and duration ofthe deficiency bat may include A Fatigue and weakness 4 tritabiiy and contusion at 4. Poot appetite and weight foss 4 Muscle weakness and pain eat A Numbness a ingling in the extremities thy, +. Diliculty walking and impaired coosdination tive 4 Vision changes nia, 4 Heart problems * Red Blood Cell Tansketolae Activity Assay is used! for diagnostic purpose ion, + mia imaging studies such as mapnetic resonance imaging (MRI mi be performed to assess fr characteristic ara, brain abnormalities. © The choive of administration route depends on the severity of the deficiency and the patient's ability to absorb and metabolize thiamin. In severe cases or when oral absorption is impaired, TV or intramuscular ‘administration may be necessary to ensure rapid and effective thiamine delivery to the body. genetic Id must OTHER OPTIONS © Option A.Riboflavin with Glutathione reductase = Riboflavin act as coenzymes which play critical cles in various metabolie pathways, including those involved in energy production and antioxidant defense.Glutathione_ is involved in the recycling of glutathione, an important antioxidant. oms, * Option B.Pyridoxine with Xanthurenie acidFEL | To The Point (Question Bank) ‘water-soluble vitamin that acts as a cofactor for various enzymes involved renie acid is « metabolite of the amino acid n of tryptophan, * Pyridoxine, or vitamin 86, is in amino acid metabolism, neurotransmitter synthesis. Xanthur tryptophan and is related to the Kynurenine pathway, which is responsible forthe metabo ‘Nehomnal levels of xanthurenie acid may indicate issues in tryptophan metabolism. + Option C.Riboflavin with Transketolase «Riboflavin is essential for the formation of coenzymes FMN and FAD. These coenzymes are involved in ‘Various metabolic reactions, including those in the pentose phosphate pathway (PPP) Transketolase is an tnzyme within the PPP, which is responsible tor generating ribose-5-phosphate, n, Page No-S28, Reference: Marper’s illustrated biochemis 11. Ans, A. Impaired collagen synthesis Asootbie aeid (Vitamin C) is necessary for the post-translational hydroxylation of proline and lysine residues. which gives ‘+ Hydroxyprotine and hydroxylysine are important for the formation of eross links in the eollage the tensile strength tothe fibers, + Thisprocoss is necessary forthe normal production of supporting tissues such as osteoid, collagen and interceliar cement substance of capillaties. ree Collagen fibers noed to be cross-linked to provide strength and siabifity to tissues. Vitamin C plays a role in ing of collagen fbers, helping to maietain the integrity of various connective tissues. the cross 1¢ Collagen is composed ofaminoacids, with proline and lysine being particularly important-These hydroxylated ‘amiiao acids are crucial for the stability of collagen's triple-helix structure, ‘such as painful swollen gums, blood vessels, loose teeth, © Vitamin C deficiency causes Seurvy with featur changes. Scurvy results from the breakdown of existing poor wound healing, bruising, joint pain, and s Collagen due to inadequate collagen replacement. ‘OTHER OPTIONS ‘© Option B. Increased keratinization of epithelium: Occur in Vitamin A deficiency + Option C. Inhibition of clotting factors: Occur in Vitamin K deficiency + Option D, Low calcium: associated with Vitamin D deficiency Reference: Harper's illustrated biochomistry, 31st Edition, Page No-S40 12, Ans. A. Me Ardles disease ‘+The given clinical ease scenario pertains to Glycogen storage disorder Type V - MeArdle’s syndrome caused by defective musele Glyeagen Phosphorylase. itemise) ‘Type “Affected Enzyme defect | Clinical features [Tissue needed for | Outcome: diagnosis T (Von Gierke's | Liver inestine, | Clucose-6-phos- | Hepatorvenaly, [Liver Ti patents survive disease) kidney phatase hypoglycaemia, inital hypoaly= ‘stunted growth, ‘caemia, prognosis ‘obesity hypotonia is good; hyperuri- ‘enema is a late complication D(Pompe’s dis. | Liver, muvele, | Lysosomal axgla- | Heart fnitre, Taukooyies, lives, | Death in first 6 ease) heart ‘oxidase iomyopathy | muscle months; juve sind adult variants 3 (Forbes dis rmusele(ab- | Amylo-t, 6 glaeo- | Like Type | Teukooyies, fiver, | Good prognosis cease) hhormal glycogen | sidase muscle structure) ype Refer 14,ved acid han, din san ch gives roellular ein lated eeth, sting, saused by oaly- gnosis yperuri alate ist wvenile variants gnosis (Andersen, Tiver 1 -orghucan Failure to thrive, | Leukooytosis, | Death in frst 3 aisease) (abnormal glyeo- | branching enzyme | hepatomegaly, | liver; muscle sears gen structure) cirmhosis and is ‘complications (McArdle dis- | Muscle only Phosphorylase | Muscle ‘Muscle ‘Nonnal lifespan: ro) cramps and myo- exercise must be slobinuria after avoided exercise (in adults) Renae ‘+ Option B.Von Gierke's disease is a deficiency of the enzyme Glucose-6-phosphatase, which is crucial for the breakdown of glycogen into glucose, Without suflcient GoPase activity, glycogen accumulates in the liver and kidneys. © Option C-Tarui's disease is caused by a genetic mutation that results in # deficiency of the enzyme phosphofructokinase (PF). This deficiency impairs the ability of muscle cells to efficiently convert glucose into ATP during periods of increased energy demand, such as exercise, ‘+ Option D.Anderson’s disease -Branching enzyme deficiency is associated with Anderson disease Individuals ‘with Andersen’s disease experience hepatomegaly , liver dysfunction, and cirrhosis, Reference: Harper's illustrated bioeh 1, Page No-167 mistry, 3st Edit 13. Ans. D. Glycog synthase + Easy fatigability and hunger betwoen meals show defects in glycogen synthesis, No glycogen inthe liver indicates deficiency af glycogen syathase enzyme. The disease is called GSD type 0. The other clinical features are Hypoglycemia, hyperketonaemia; early death. HIGH YIELD ‘Glycogen Storage Disease: ype [Name enzyme deficiency [Scructural or einical consequences hee Gieneats ate base vere Post absorptive hypogtyeemia, laetic cidemia, hyperlipidemia " [xsecomal gen granules in Lysos0 Ii JPompe’s eS Flycogen granules in lysosomes lit [Cox Dpebeanching enzyme Itered plycogen stttute, hypoglycemia kv. [Andersen's [Branching enayme [Altered glycogen structure ales Mase lExcess muscle glycogen deposition, exereise- [Meare's phosphorylase {induced cramps and fatigue Liver lie teers? Iypoglyeemia, not as severe as type eyed iypoatyee ip OTHER OPTION. * Option A. Branching enzyme deficiency is associated with Anderson disease.tndividuals with Andersen's disease experience hepatomevaly , liver dysfunction, and cirrhosis, * Option B, Debranching enzyme deficiency is associated with Cori disease, © Option C. Glucose 6 phosphatase -Von Gierke disease isa deficiency of the enzyme glucose-6-phosphatase, hich is crucial for the breakdown of glycogen into glucose. Without sufficient G6Pase activity, glycogen ‘accumulates in the liver and kidneys. Reference: Harper's illustrated biochemistry, 31st Edition, Page No-419,420,428 14, Ans, B. Vitamin BI2 deficieney Explauation:B12 neuropathy typically presents with a range of neurological symptoms, including peripheral neuropathy.Symptoms involve the peripheral nerves, leading to sensations of rumbness, tingling, and weakness in the extremities. can also cause other neurological issues suchas difficulty walking, balance problems, and cognitivePee The Point (Question Bank) fh Enis Causes of B12 deficieney: Gasttie Atrophy, preg nuteitional deficiency, pernicious anemia ‘© Deficioney manifestations: Demyelination, achlorhyclria, folate trap, megaloblastic nnemia, abnormal hhomoeysteine level and homocystinuria, Subacute combined degeneration of the spinal Cord: Symmetrical paraesthesia of extremities, alterations ‘of tendon and deep senses and reflexes, loss of position sense, tunsteadiness in gait, postive Romberg’s sign (falling when eyes are closed) and positive Babinski’s sign (extensor plantar roliex), OTHER OPTION ‘© Option A. Vitamin B9 -The neuropathy associated with folate deficiency often presents similarly to BI2 neuropathy, with symptoms like numbness, tingling, and muscle weakness in the extremities. impaiment and mood disturbances may also occur but less severe than B12, * Option C. Vitamin B3 deficioncy cannot involve neurological issues like difficulty walking, balance problems, and cognitive changes like. B12 deficiency + Option D. Vitamin BL; la severe cases of Thiamine deficiency, « condition known as Wernicke-Korsakoff syndrome can develop. Wemnicke’s encephalopathy involves confusion, ataxia (a tack of musele coordination), and eye movement abnormalities, Korsakoll syndrome includes memory problems, cognitive impairment, nl confabulation. per’s illustrated biochemistry, 31st Edition, Page No-535,536 : : fish tapeworm, gastrectomy, malabsorption syndromes, Reference: 15, Ans. C. Lecithin ‘+ RDS primarily occurs due to the immature development of the lungs in premature babies, where the lungs do ly aD p potprdave ule surfctan j « _Lesthin absence from te kings of premature infants causes espittory distress syndrome : fre + Lang surfictants ao soereted by Type Il preumoeyts + Surfactant reduces surfece tension ofthe aqueous ayer of fang nd prevents collapse of lung alveoli = Constituents of surfactants: Dipalmitoyl phosphatidylchotine (DPPC) or dipalmitoy! lecithin (DPL}, phosphatigy elycerol, cholestrol and surfactant proteits A, Band C During feta ie the hing synthesizes wpingomyelin before 28k wock of GA & when th ess mates, more lecithin i produced. +The evthinsphingomyelin (LS) ratio of amnioe Suid isan index of fetal matrity. UF the rato is 2, i indicates fll ng mati + Lesthin absence fom the higs of prematie infants causes respiratory distress syndrome + Premature infntshave a higher incidence of RDS becaise the immature ngs donot synthesize enough DPL, q OTHER OPTIONS + Option A. Phosphatidyl ethanolamine or Cephalin is found in bio mem properties + Option 8. Sphingomyetin plays a vital role inthe structure and integrity of cell membranes, especialy in nerve cells. ts an essential component ofthe lipid bilayer that forms the basic structure of al cell membranes. + Option D. Cardiolipin of Di phosphatidylglyeerol is a major lipid of mitochondrial membrane and extracted from myocardium, Decreased cardiolipin level results in mitochondrial dysfunction, heat faire, hypothyroidism, and myopathies, nes and possess amphipathic Referen Harper's illustrated biochemistry, 31st Edition, Page No-200 16, Ans. C. High Urate ethanol metabolism, inhibition of renal exeretion of urate by lactic acid, xls of beverage are responsible for the elevation of serum uric acid level Purine nucleotide degradation duri fand high purine content of certain kit following aleohot drinkingormal trical < sigt > BID sitive sakott tion), ment, + lungs do DPL), - more 2, it DPL. pathic ally anes. netic acid, acid lovel Biochemistry HIGH YIELD effects of alcohol abuse 1. High blood pressure 3. Heart problems, 4, Blevated triglycerides 5. Impaired sexual fmetion 6, Low blood sugar 7. Vitamin and mineral deficiency 8, Chronic fatigue 9, Ketoacidosis, 10, Osteoporosis, 11, Gout 12, Rhabdomyolysis 13, Body weight control 14, Anemia, 15. Decreased number of blood platelets 16, Increased severity and duration of menstrual cramps: uml welcne. ‘* Option. A. Low lactate © High NADH/NAD drives the increased synthesis of lactate from pyruvate leading to raised lactate levels * Option. B. High glucose * High NADHINAD promotes decreased gluconeogenesis leading ( fasting hypoglycemia + Option D: Low urate ‘® There is increased urie acid levels in chronic alcoholics Reference: Essentials of medical Pharmacology Sth Edition page no.283during the digestion, ‘composition ri oet The ee ST tot Tuten nie body Thiselet varies dependn ‘of the food consumed. Let's examine each option in detail and discuss their thermic effects: «Protein: Proteins have Ee highest thermic effect among the three macrenutrests, Whoa you consume a eres hour boty fends expend more energy © eck down and process the proteis.Ths I aot ca compo oan sly and th body sees ery crv thm im wale fms reife of ans anges or 20% t 30% ofthe toa atc tae om pon © Thermic effect of food: tacronutrient cect Bxamples vent an. va et (6 cian ke, ean ee Fh, BS, ay Protein Capponi 2 pater yop) nese), protein supplements Whole grains (eg. brown rice, quinoa, whole wheat bread), Moderate TE a starchy vegetables (e.g. sweet potatoes, cot), fruits (eg. 5 of calories expended) apples, betes), and legumes (eg, chickpeas, black beans), (approximately ils (eg, olive oll, coconut ol), fatty fish (eg., salon, mackerel), nuts (eg, almonds, walnuts), seeds (e.g, fake seeds, chia sees), and avocados. Lowest TEF (approximately ‘oF calories expended) Cuiladen ‘+ Option: B. Carbohydrates: Carbohydrates have a moderate thermic effect, The thermic effect of earbohydrates ranges from 5% to 10% of the total caloric intake from carbohydrates. + Option: C. Fats; Pats have the lowest thermic effect among the macronutrients. The thermic effect of fats ranges from 0% to 5% ofthe total caloric intake from fats. © Option: D. Fatty acids: Fatty acids are the building blocks of fats, and th of fats. Reference: DM Vasudevan textbook of biochemistry for medical students,7th Edition, Page No-529 2 thermic effect is similar to that cine ‘+ Glycine is an amino acid that does not directly participate in the synthesis of hormones. While glycine is an important amino acid involved in many biological processes, including the synthesis of proteins, itis not a precursor for hormone synthesis. ‘© On the other hand, tyrosine, phenylalanine, and tryptophan are all aromatic amino acids that serve as building blocks for the synthesis of various hormones. Cuca ‘© Option A. Tyrosine: Tyrosine is a precursor forthe synthesis of several important hormones, including thyroid hormones (thyroxine and triiodothyronine), catecholamines (epinephrine, norepinephrine, and dopamine), and melanin. © Option B. Phenylalanine: Phenylalanine is converted into tyrosine in the body and, as a result, indirectly contsibutes to hormone synthesis, Tyrosine, derived trom phenylalanine, is then used for the synthesis of various hormones. © Option C. Tryptophan; Tryptophan is an essential amino acid that serves as a precursor for the synthesis of serotonin and melatonin, both of which are important hormones involved in regulating mood, steep, and other physiological processes. Reference: Harpers, Ilustrated Biochemistry: 31st Fdtion, Page No.265 17 ae Biochemistry iophorase @ Awa + Thiophorse aso lnown as suewinyl-CoA:3-Ketoacid CoA transfea Droventing it from using ketone bodies (KB) as fel source ee + The liver plays.a crucial role in ketone body met Nn intake, the liver produces ketone bodies (acetoacetate and B-hydroxybutyrate) through process called ketoger compos! These ketone bodies are then released into the bloodstream and can be used a8 an alternative various tissues, including the bain, hea, and skeletal muse is the enzyme that is absent in the five olism. During periods of prolonged fasting ot low carbohydrate source by ou consume cins. sable forms. + However, the liver licks the enzyme thiophorase (suceinyl-CoA:3-ketoacid CoA the ketone bodies Te produces, This enzyme is required to convert aos can then be further metabotized into two molecules of acetyl-CoA. Acetyl-CoA metabolism and can enter the citric acid eycle (also known as the ansferase) necessary to utilize 0 _acetoacetyl-CoA, which molecule in energy rebs cycle) to produce ATP, * Due to the absence of thiophotase in the liver, the liver cannot use ketone bodies tr peclases ketone bodies into the bloodstream for other tissues to utilize. This allows other organs, particularly the brain, to switch to ketone bodies as a fuel souree daring periods of fasting or earbohydtate restriction, Preserving ghicose for organs that depend om it, such as red blood cells and certain parts of the brain exes, dairy ae Meade * Option: Thiolase te involved in ty acl biosyethess and calles the ily eleavageof-keoacy st brea), coenzyme A (CoA) to acetyl-CoA and aey-Co (68 * Option C. HMG CoA synthase: HMG CoA synthase isnot dtecly related 1 the ullization of ketone bodies i beans), in the liver. It is an enzyme involved in the synthesis of 3-hydroxy-5-methylglutaryl-CoA (HMG-CoA), a Brecursor molecule in the proguction of cholesterol and ketone bodies. However, the abeenee oC HMO Con ~ ‘synthase would impact the overall synthesis of ketone bodies rather than their utilization, a8 an enewuy source, fastend, the Option D.HMG Coa reductase: HMG CoA reductase is an enzyme involved in the synthesis of mevalonate, which isa precursor molecule in the production of cholesterol. However, the abscace of HMG CoA reductase in the liver would not directly affect the tilization of ketone bodies. It would primarily it of cholesterol and other dawnstream products. ict the synthesis sid Reference: Harper's, Mustrated Biochemistry: 31st Edition, Page No.207-211 Ans. A. Lysosomal acid alpha glucosidase ct of fats + Pompe’s disease, also known as glycogen storage disease type Il or acid maltase defiieney, is a rare genetic Aisorder characterized by the deficiency or absence of the enzyme lysosomal acid alpha glucasidase (also called arto that ‘cid alpha, glueosidase o acid maltase). This enzyme i responsible for breaking down g'ycogen, a complex sugar ‘molecule, into glucose within the lysosomes of cells Glycogen storage disease: “Type Name Enryine deficieney Structural or clinical consequences ; Severe Post absorptive ypoglyeenia, ato in is an 1 Gietke’s Gie-6-Pase ae belies " acidemia, hypertipidemia Pe "s Lysosomal Glycogen granules in lysosomes e as building 7 pee srglucosidase eee i Cans Debranching enyine ‘Altered lyeogen stactre, hypoveonia wv ‘Andean'y Branching enzyme ‘Altered glyoogen structure ‘isle xcoss muscle glyeogen deposition, eenioe v card's thyroid ae phosphorylase induced eramps and fatigue amine), vi lors? se olycemia, not as severe as type ow a phosphorylase Hyposlyoonia, notes severe as fypof nditectly thesis of ieee Option B, Phosphofiuctokinase: Phosphoffuctokinase is an enzyme involved inthe regulation of glycolysis, the metabolic pathway that breaks down glucose to produce energy in the form of ATP. thesis of and other Option C. Muscle glycogen phosphorylase: Muscle glycogen phosphorylase is an enzyme responsible forthe breakdown of glycogen in muscle tissue. {ts deficiency causes McArdle’ disease802 | To The Point (Question Bank) «Option D, Lactate dehydrogenase: Lactate dehydrogenase san enzyae involve in the conversion of nes, Produc of anaerobic metabolism, back ino pyruvate, which can enter the citric acid eye fo further energy production. oferonce: Harper's, Mlstrated Biochemistry: 3ttKtion, Page No-167 CH Avs.A. Conia “The defect in this patient ix Ba ig related to Carditipin hh syndrome, which is characterized by musele weakness and eatdiomyopathy, which is males and is caused by mutations in gones + Barth syndrome is a rive genetic disorder that primarily alle responsible for the production of an enzyne involved in cardiolipin synthesis c, where it plays & + Cardioliin is @ unique phospholipid primaty foun! in the inner itochond ‘racial role in maintainiig mitochondrial structure and function, olectron «The defective cardiolipin affects several mitochondrial processes, including onergy productos transport chain function, and mitochondrial membrane stability «The mitochondrial dysfunction observed in Barth syndrome contributes to che symptoms of muscle weakness fiomyopathy seen in affected individuals Pee welilen e Option B, Lecithin is a common phospholipid found jn various tissues and eell membranes, but IIs specifically associated with Barth syndrome or mitochondrial dysfunction «Option C. Lysoleithin isa derivative of lecithin thats formed when Teeth is nydrolyzed. I not directly related to Barth sytdrome or mitochondrial dysfunction, 4+ Option D. Cephatin i. term tha ors to a group of phospholipids presen in ell membranes, but 8 Hot speeifially linked to Barth syndrome oF mitochondrial dysfunction jon, Page No.118,200.201 Retorence: Hyper’ raed Biokemisy: sf Ans. A. Rothera's Test Th tear mal Tor tho detection of ketone bodies (KB) inthe given scenario of a 15-year-old boy with tye I diabetes mellitus is Rothera’s Test eRelhet's Tests a eommonly wed laboratory tet to dtet the presence of ketone odie ape fealy aoe ey attae of blood samples. It is porticlarly relevant inthe content of diabetes, mellitus, 3s sraeretis wilh uncontrolled diabetes, especially type { diabetes, may experience an increase in Ketone production. «Intype T diabetes, tho body is unable to produce sufficient insult, esting ia lack of gcose aization by ase oneray, As a osu, the body begins to break down fats as an alternative energy source leading the production of ketone bodies, including acetoacetate «s_ Rothera’s Test involves the reaction of aeetoacofate with sodium nitroprusside and elyeine in an all ‘medium, ‘This reaction fortes a purpl Tndicating the presence of Ketone bodies, «Om the other hand, the’other options Fisted are not specific tests forthe detection of ketone bodies in this context: OTHER OPTIONS ‘© Option B, Benedict’ testis used to detect the prose ce of reducing sugass, such as glucose, in a solution. «Option C.SeliwanofT’s testis use to tferentint between diferent types of sugus, partcuarty distinguishing oioses from aldoses, 1¢ presence of proteins in a sample by reacting with ¢ Option D.Biaret. test: The Biuret testis used to d peptide bond. = Retectate, Reference: DM Vasudevan texthook of biochemistry for medical students,7th Edition, Page No-138,166,365 staal Fy Ans. A. Vitamin B6 dete So xan aukea, Tryptophan load test ates Vitamin B6 defcieney, fee hy, which ‘© Xanthurenic acid is a metabolite that is Formed during the breakdown of the amino acid tryptophan, Under normal conditions, eyptophan is metabolized along dhe kytwrenine pathway, which involves the conversion in gones of uyptophan to various intermediate compounds. One of these intermediates is xanthuarenie aid + Inindividuals with a deficiency of vitamin B6 (pyridoxine), the conversion of tryptophan to niacin (vitamin 183) is impaired. As a resell, eyptoph 72d theough an alfemaive pathway, leading 10 the it plays a aceumulation of xanthe d. Therefore, the pressnce of xanthurenic acid in urine is indicative of 2 + It's worth noting thot the ethet options listed, including b) Vitamin BI deficiency, ¢) Niacin deficiency, avd + lactron 4) Vitamin B2 deficiency, ate not directly associated with the presence of xanthurenic acid in urine, Each of these deficiencies hs ae iene © Option C. Niacin is not loud test. © Option D. ie inet a Reference: Harper's, Illustrated Biochemistry: 31st dition, Page No.288,533-538 8, Ans. A. Most abundant AA is Pheny!ala Lis not = The falso statoment about collagen is: Most abundant AA is Phenylalanine. © Collagen is fibrous protein that is indeed the most abundant protein in the human body. It provides structural support to various tissues, including skin, bones, tendons, and blood vessels. However, the most abundant amino id in collagen is actually glycine, not phenylalanine. Glycine makes up approximately one-third of the a vith type T acids inthe collagen protein chain. OTHER OPTIONS + Option B. Collagen is a type oF brous prote strong and flexible structure in various tissues. ‘hat is the most abundant peotein in the burnan body. It Forms, 8, a8 © Option C. Post translational hycroxylation of protine and lysine residues is an essential process in collagen ketone symhesis. This hydroxylation is necessary forthe proper formation and stability of collagen’s triple helix structure tion by + Option D. The tiple helix structure is a characteristic feature of collagen and is erucel for its function to the Collagen molecules are composed of thtee polypeptide chains, coiled around cach other in a triple helical arrangement, This structure provides collagen with its strength and stability kaline Reference: Harper”s, Mustrated Biochemistry: 3ist Edition, Page No.592-595 8. Ans. D.GUAGAUC ‘© Base Pairing Rute: The DNA transcription process follows the base pairing rule, where adenine (A) on the DNA strand pairs with uracil (U) of the RNA strand, and eytosine (C) on the DNA strand pairs with guanine (G) on the RNA sttand. This complementary base pairing ensures thet the RNA molecule is faithful copy of the DNA template stran. tion © ‘Template Strand: Only one ofthe two DNA strands, the Cemplate strand, is used as 8 template for transcription, ‘The other strand, known as the non-template oF cexling strand, remains uninvolved, The RNA molecule is, synthesized in the 8° to 3° direction based on the template stan. ‘©The base sequence of RNA formed is exactly the same as the non-template strand which in this case is $* ing with GTAGATC 8. ‘© Wehave to just replace the T with U to get the RNA sequence, So RNA sequence is: 5" GUAGAUC Reference: Harper's, Mlustrated Biochemistry: 3ist Edition, Page No.375 hl in this suishingTo The Point (Question Bank) INT CET NOV. 2022 (PART-A) Aus, A. Cateium + Glycogen phosphorylase is the ate limiting enzyme of Glyeogenoysis and has two forms: Active fom ‘a! and ecine fornt =", Phosphorylation of b ean change itto active form synos of elycogenolysis as any other catabolic pathway are activated in their phosphorylated stale, So, es phosphorylation will activate this enzyme and vice vers. ‘compound which ¢ dixoctly activates glycogen phosphorylase. + However, Cateium in association with calmodulin (Ca-calmodul Ctyeogen phosphryave-aciratrs and nhs ae ERE estosshanaton ‘iycegonphonphorle (a) ‘eycogon prosper i ‘eh ‘Ac peepee form imac apostate {ted Biochemistry: 31st Edition, Page No.167,168 =| Reference: Harper's, Hlustra 2. Ans. D. Branched chain keto aetd dehydrogenase + Bamtsugarlike odor isa chatacteristic feature of Maple Syrup Urine Disease (MSUD) which occurs due to the inherited deficiency of branched chain Keto-acid dehydrogenase/decarboxylase «sItresults in a defect in oxidative phosphorylation and catabolism of branched-chain amino acids (BCAA) Valine! Tsolcucine/leucine. As a result, these amino acids are excreted in urine, There is also mental retardation, ‘OTHER OPTIONS Enzyme defect Disease Body odor Phenylalanine hydroxylase Phenylketonuria| Mousy/Musty Teovaloryl CoA dehydrogenase Tsovalerie acidemia Rancid/cheosy/Sweaty feet Fumarylacetoacetate hydrolase “Tyrosinemia Type t boiled cabbage/oten mushrooms, Tyrosine transaminase “Fyrosinemia Type I PHPP hydroxylase (Complete Det) “Tyrosinemia Type Hl PIIPP hydroxylase (partial Def) Hawkinsinaria ‘Swimming pool like Reference: Harper's, Illustrated Biochemistry: 31st Edition, Page No.660-661 ‘The function of the HMP pathway is the generation of nicotinamtde adenine dinucteotide phosphate (NADPH). NADPH is a teducing agent vital for many biochemical reactions, including: © Protection against oxidative stress: NADPH is used to maintain the reduced form of glutathione (GSH), which vets as a cellular antioxidant. This hefps protect cells from damage caused by reactive oxygen species (ROS) and oxidative stress. «Fatty acid synthesis: NADPH is a cofactor for fatty acid synthase, an enzyme involved in de novo fatty acid biosynthesis «Detoxification reactions: NADPH is needed for reactions that detoxify harmful compounds, such as cytochromeP450-mediated drug metabolism. anes SE oen So, any ni i) eronora [tH sae, slase Se Santina ee aa ie Compete rion of IMP Sohease f+ ——+ 2 Gtmns0 6 Gyno 3+ Saar Snore OTHER OPTION. ‘| HMP produces NADPH in the oxidative phase, Atthe end of oxidative phase ribulose 5-Pis produced which jis further utilized for ribose 5-P synthesis (see fig) (sa option D is false). + Glycerakchyde 3P (one ofthe end-products of HME) can enter into glycolysis to first form pyruvate and later acetyl Coa. Reference: Harper's lasrated Biochemistry: 3st Eatin, Page No.82-18 ue tothe 4. Ans. C. Tanger’ dsease Large orange’ yellow tonsils or a characteristic feature of Tanger’ disease ee Tangier’ disease Hypo alpha lipoprateinemia + ABC-AL transporters are required for efx of nace fre cholestrol and phospholipids ross the plasina tmenbyane 19 combine wilh xpolipprotens, forming nascent high-density lipopotein-cholsterol (HDL-C) partite (se A. NADPH). e (GSH), m species fatty acd +0, in case of defestive ABC-AI, HIDL cholesterol and PL are not exported and HDL. isnot properly formed fet causing HDL (Hypo alphe-lipoproteinemia, STE ee se ee eee elCholesterol ac A Hepatosplenomegaly > Enlarged tymph nodes A Large orange’ yellow ton © to fat deposition) +The characteristic feature of Wolman’s disease is ealeification of adrenals. [tis lso known as cholesterol ester storage disease snd occurs due to deficiency of enzyme acid lipase. Reference: Harper's, [Musteated Biochemistry: 31st Kdition, Page No.258 © Cystic fibrosis is due to mut © This protein helps in movement of H,O and ebforide fon = Innormal conditions, the eh ‘Ans. B. Phenylakuine at S08 ion in cystic Abrosis transmembrane conductance regulator (CFTR) protein by talanine at position $08 of this protein. deletion of one codon which gives rise to ph in and out of the eoll and helps in the formation of mucus secretion il allows the formation of a thin layer of mucus. But in eystie fibrosis, a thick. layer of mucus is Formed (see fiy) eausing airway obstruction leading to infection and ultimately scarring of lang tissue. vies eo Norma CFTR chanel Shaan CFTR cho Reference: Harper's, Mlustrated Biochemistry: 31st Edition, Page NoA72 6 a Characteristic of Peroxisomal pathways: . B, Alpha oxidation of branched chain fatty acid © NoATP production in any of peroxisomal pathways, ‘+ H,0,is regularly formed which is neutralized by peroxisomal enzymes catalase & peroxidase. ‘© Two pathways which occur in peroxisomes ae: A @-Oxidation of branched chain fatty aeids (BCFA) 4 Oxidation of Very Long Chain Fatty Acid (VLCFA) Refsum’s disease: Occur due to defect in a-oxidation of BCFA in peroxisomes due to defect in phytanio acid hydroxylase, So, Phytanie acid not oxidised. pi velatene Referene c and stearic acid ‘¢Bela-oxidation occurs for saturated and even chain falty acids like palm ‘+ In Omega-oxidation dicarboxylic acids are formed. In MCAD deficiency there is dicarboxylic acidosis and nonketotic hypoglycemia, 1 Harper's, Iustrated Biochemistry: 3tst Edition, Page No. 215 Referens 8. Ang Rr step Refereng 9. Ans Sole prot sat asfvtcin by ation of 0 thie zof hung, tanie acid and © In Zellweger syndrome, there are empty peroxison oxidation of VLCFA, So, both phytanie acid aud VLCPA, Disorder (PRD). 2. Ans. C, Peroxisomes in all body cells causing defects in alpha-oxidlation and ccurmulate, Fis the most severe Peroxisomal Biogenesis, Charaeteristc features of Zellweger syndrome include: ‘© Neurological Abnormalities: Zellweger syndrome typically exhibit profound neurological abnormalities, It includes poor muscle tone (hypotonia), developmental delay, seizures, and intellectual disability. The central nervous system is significantly affected Facial Dysmorphism: Children with Zellweger syndrome often have dlistinetive fail e forehead, large fontanelte (soft spot on the head), high, broad Forchead, and a flat face. ® Vision and Hearing Impairment: Vision and hearing problems are common in individuals with Zellweger syndrome, They may have impaired vision, cataracts, and hearing loss + Organ Dysfunetion: The disorder can lead to preblems with various organ systems. Liver dysfunction is common, ‘and it can result in jaundice. Heat, kidney, and lung abnormalities may also occur Skeletal Abnormalities: Skeletal abnormalities such as weak or poorly developed bones can be present, abnormalities, iatod with distinctive biochem + Biochemical Abnormalities: Zellweger syndrome is ass including clevated levels of very long-chain fatty acids inthe blood and reduced levels of plasmalogens, a type ‘of phospholipid. + Failure to Phrive: Infants with Zelivveger syndrome often have difficulty gaining weight and growing, lending to failure to thrive, © Lifes severely reduced! life expect 1g Condition: Zellweger syndrome is lied condition, and most affected individuals have a cy, The condition often leads to early infant mort Reference: Harper's, Ilustrated Biochemistry: 31s¢ Edition, Page No.215,579 8. Ans.C. bottin RT-PCR is based on the principles of traditional polymerase chin reaction (PCR) but with an initial reverse transeription step to convert RNA into complementary DNA (DNA), + SARS CoV-2 is ssRNA virus, So, detection of this virus involves detection of RNA which can be done by RT PCR and realtime PCR both of which uses reverse transcriptase enzyme for synthesis of DNA from RNA and then normal PCR to quantify it, * ‘The second method which is used is based on detection oF viral antigen which can be done using immunoassays. + Southom blotting detects DNA which can’t be used for detection ofthis vitus direct. © Option A. RT PCR is used to diagnosed SARS CoV-2 is a ssRNA virus, © Option B, Real time PCR is used to diagnose SARS CoV-2 is a ssRNA virus Real-time PCR provides: accurate quantification of DNA or RNA. IL is used For gene expression analysis, viral load quantification, © Option D, Immunoassays is used to diagnosed SARS CoV-2. which is assRNA virus as a genetic material Reference: Harper's, IMustrated Biochemistry: 31st Edition, Page No. 341 9. Ans. B. Glutathione peroxidase nocysteine is present in glutathione peroxidase. Glutathione peroxidase is an enzyme that plays a vital role in protecting cells from oxidative damage, I is part of the collnlar antioxidant defense system. Glutathione peroxidase catalyzes the reduction of hydrogen peroxide (#202) and organic hydroperoxides using reduced glutathione (GSH) as a cofictor. This enzymatic reaction helps neutralize these reactive oxygen species (ROS) that ean cause eetlular damage { * Enzymes which require amino acid selenocysteine at their catalytic site arc: : A. Glutathione Peroxidase A Thioredoxin Reductase