INTERVIEW WITH THE DOCTOR

Galactosemia is a very rear hereditary condition, it is hereditary because it cannot be acquired- it

is born with. Autosomal recessive is the mode of acquiring this disease which means that it will

not show on the face of the child with this disease but can only be detected at the level of the

gene.

CAUSE OF GALACTOSEMIA

When an enzyme called galactose-1-phosphate uridylyl transferase is lacking in the body i.e an

enzyme that convert carbohydrate to the food metabola that is useful for the body is lacking in

the body of an individual, the child will not be able to digest the consumed glucose and will have

to pass it out has eaten.

SYMPTOMS GALACTOSEMIA

Very early in life the child may not be able to tolerate glucose or carbohydrate-based food.

He/she will be having diarrhea and if care is not taken because it is a very rear condition, the

health workers may not be able to pick it early until the child shows signs of malnutrition.

Stooling

Vomiting

Loss of weight

Present of protein in urine

Skin appears yellowish.

Variants of galactosemia

 classic galactosemia

 clinical variant galactosemia

 biochemical variant galactosemia (Duarte variant galactosemia)

Prevention of Galactosemia

This disease cannot be prevented but can be managed by recommending less of glucose, less

of carbohydrate types of diet for a child with this condition.

Mothers can also be educated on helps such child.

It is worthy to note that girls generally are more affected with this disease than boys

EFFECT OF GALACTOSEMIA ON A CHILD

If this disease is not discovered and treated early, it may affect;

The speech of the child.

Muscle coordination of the child

The child may lack energy

Struggles holding a pen and writing.

The child may be impulsive

The child may have poor motor planning and processing.

He/she may become easily frustrated.

HOW TO HELP CHILDREN WITH GALACTOSEMIA IN THE CLASSROOM

 Breathing: Advise the child to take a deep breath if speech is erratic

 Tracing: Allow the child to trace letters repeatedly
 Repetition: repeat exercises several times to enhance muscle memory
 Functional Training: practice exercises that mimic everyday movements
 Modeling: place the children next to peers so that they can model behavior
 Sensory Table: use of sensory table to work with different mediums
 Structure: maintain a similar classroom structure and schedule
 Sequence: transition subject topics in the same pattern each day
 Instruction: one-on-one instruction with significant repetition is very helpful

Look for patterns/behaviors in the classroom that can be reinforced in the home.

Have an open communication policy with parents, other clinicians and educational professionals.
AN OVERVIEW

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s

ability to convert galactose to glucose. Galactose is a sugar contained in milk, including human

mother’s milk as well as other dairy products. It is also produced by the human body, and this is

called endogenous galactose. Glucose is a different type of sugar. The disorder is caused by a

deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this

process. Early diagnosis and treatment with a lactose-restricted (dairy-free) diet is absolutely

essential to avoid profound intellectual disability, liver failure and death in the newborn period.

Galactosemia is inherited as an autosomal recessive genetic condition. Classic galactosemia and

clinical variant galactosemia can both result in life-threatening health problems unless lactose is

removed from the diet shortly after birth. A biochemical variant form of galactosemia termed

Duarte is not thought to cause clinical disease due to lactose consumption.

Symptoms

 galactose-1-phosphate uridylyl transferase deficiency

 transferase deficiency galactosemia

 GALT deficiency

SUBDIVISIONS

 classic galactosemia
  clinical variant galactosemia

 biochemical variant galactosemia (Duarte variant galactosemia)

Signs and Symptoms

An infant with galactosemia appears normal at birth, but within a few days or weeks loses their

appetite and starts vomiting excessively. Yellowing of the skin, mucous membranes, and whites

of the eyes (jaundice), enlargement of the liver (hepatomegaly), appearance of amino acids and

protein in the urine, growth failure, and, ultimately, accumulation of fluid in the abdominal

cavity (ascites) with abdominal swelling (edema) may also occur. Diarrhea, irritability, lethargy

and a bacterial infection may also be early signs of galactosemia. In time, wasting of body

tissues, marked weakness, and extreme weight loss occur unless lactose is removed from the

diet. Children with galactosemia who have not received early treatment may show arrested

physical and mental development and are particularly susceptible to cataracts in infancy or

childhood. In severely affected children, overwhelming infection in the newborn period can

cause life-threatening complications, but children with Duarte variant galactosemia may have

few signs and no serious impairment(s).

In order to avoid the consequences of galactosemia, which may include liver failure and kidney

dysfunction, brain damage and/or cataracts, infants must be treated promptly by removing

lactose from the diet. Children treated with this special diet may still experience complications.

Speech and learning difficulties and some behavioral problems are still likely to occur. Ovarian

impairment is almost always seen in girls with classic galactosemia and is associated with an

increase in the blood level of the gonadotropin hormone, follicle-stimulating hormone (FSH);

males with galactosemia do not usually exhibit abnormalities in gonadal function.

The above-mentioned complications associated with classic galactosemia and clinical variant

galactosemia have not occurred in individuals with Duarte variant galactosemia, a type of

biochemical variant galactosemia. However, in a minority of these children, developmental delay

and/or a speech abnormality has occurred, but it is unclear whether this is related to

accumulation of galactose and its metabolites. Individuals with Duarte variant galactosemia do

not need to maintain a special diet.

CAUSES

Galactosemia occurs due to disruptions or changes (mutations) in the GALT gene resulting in

deficiency of the GALT enzyme. This leads to abnormal accumulation of galactose-related

chemicals in various organs of the body causes the signs and symptoms and physical findings of

galactosemia.

The GALT enzyme is needed for the breakdown of the milk sugar, galactose. Deficiency of this

enzyme results in the accumulation of toxic products: galactose-1-phosphate (a derivative of

galactose) and galactitol (an alcohol derivative of galactose). Galactitol accumulates in the lens

of the eye where it causes lens swelling and protein precipitation and subsequently, cataracts.

Accumulation of galactose-1-phosphate is thought to cause the other signs and symptoms of

disease. Galactosemia is an autosomal recessive genetic disorder. Recessive genetic disorders

occur when an individual inherits a non-working gene from each parent. If an individual receives

one working gene and one non-working gene for the disease, the person will be a carrier for the

disease, but usually, will not show symptoms. The risk for two carrier parents to both pass the
non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to

have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child

to receive working genes from both parents are 25%. The risk is the same for males and females.

AFFECTED POPULATION

Classic galactosemia is diagnosed in the range of 1/16,000 to 1/48,000 births through newborn

screening programs around the world, depending on the diagnostic criteria used by the program.

The disorder has been reported in all ethnic groups. An increased frequency of galactosemia

occurs in individuals of Irish ancestry. Clinical variant galactosemia occurs most often in African

Americans and native Africans in South Africa who have a specific gene mutation.

DIAGNOSIS

Classic galactosemia and clinical variant galactosemia are diagnosed when galactose-1-

phosphate is elevated in red blood cells and GALT enzyme activity is reduced. Molecular genetic

testing is also available to identify mutations in the GALT gene.

Nearly 100% of infants with galactosemia can be diagnosed in newborn screening programs

using a blood sample from the heel stick. Infants with clinical variant galactosemia can be

missed at newborn screening if GALT enzyme activity is not measured.

Treatment

Infants and children with galactosemia should have a lactose-restricted (dairy-free) diet that

contains lactose-free milk substitutes and other foods such as soybean products.

A lactose tolerance test should NOT be administered to children with galactosemia. Fortunately,
infants with galactosemia can synthesize galactolipids and other essential galactose-containing

compounds without the presence of galactose in food. Therefore, satisfactory physical

development is largely possible if a strict diet is followed.

Speech therapy may be necessary for children with childhood apraxia of speech or dysarthria.

For school age children, individual education plans and/or professional help with learning skills

may be necessary for some individuals, depending on psychological developmental assessments.

Hormone replacement therapies may also be used in cases of delayed puberty and later in

adolescence for the secondary loss of menstrual periods, termed premature ovarian insufficiency

(POI).

Appropriate treatment (i.e., antibiotic drugs) may be used to control infection in the newborn

period. The emotional effects of the strict diet may require attention and supportive measures

throughout childhood.

Genetic counseling is recommended for families with children who have galactosemia.

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