WHAT IS ALKAPTONURIA?
Alkaptonuria (AKU), also called black urine, is a rare genetic inborn error
characterized by the accumulation of homogentisic acid because of the enzyme
deficiency and mutation in the homogentisate 1,2-dioxygenase.
HISTORY OF ALKAPTONURIA
This disease was found by the scientist in the Egyptian mummy Harwa dated
1500 B.C. The term alkaptonuria was used in 1859 in a female patient who had
a reducing compound detected in urine.
gen e t ic
A di s o r d e r
ear black urine
cardiovascular arthritis
cartilage
ochronosis issues
e p i d m io l o g y
e
This disorder is common in Slovakia and the
Dominican Republic, where there's an incident of 1
out of 19,000.
Caused by mutation in the homogentisate 1,2
dioxygenase gene.
Also followed by an autosomal recessive inheritance
pattern.
It is not caused by lifestyle or environmental factors.
p t o h s o ogy
a h p y i l
laboratory diagnosis
Use of modern
imaging modalities
Take a urine test for HGA, Molecular genetic like CT scan or MRI
this is the gold standard to testing this can can help in
diagnose alkaptonuria,
identify the biallelic assessing the
and the amount of
abnormalities in
homogentisic acid in the severity of the
24-hour urine is observed HGD and other
via gas chromatography-
disease.
mutations.
mass spectrometry (GC-
MS) analysis.
2D-
CT Angiogram it
Echocardiography
can detect
this will detect if
calcification of
there is an
coronary vessels.
abnormalities in the
heart.
tmen t / management
ea
r
Regular
Emotional
t
Monitoring Surgery
Low Protein Diet regular check- Support
ups with a those who
can reduce tyrosine find out they
healthcare have
load and reduce the
provider. alkaptonuria Joint replacements, spinal
severity of the may feel surgery, and aortic or
disease. mitral valve replacements
anxious or
may be necessary.
depressed.
Exercise
can help by
building muscle Nitisinone
and strengthening
reduces the level
Hydration your joints.
of HGA in the body
can help dilute Physical Therapy
homogentisic acid in
can help maintain
Vitamin C
the urine, potentially joint mobility and
High doses can help
reducing its effects. manage symptoms
hinder the accumulation
related to arthritis.
of HGA
