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What is
Alkaptonuria?
Alkaptonuria is an inherited condition that
causes urine to turn black when exposed to
air.
How common is
alkaptonuria?
This condition is rare, affecting 1 in 250,000 to 1
million people worldwide.
Carrier
Mother
Normal
Gene
Carrier
Father
Altered
Gene
Normal
Gene
Carrier of the
condition.
Carrier of the
condition.
Has the
condition.
CAUSES:
Inability to convert homogentisic acid to
maleylacetoacetic acid.
SYMPTOM
S:
Urine in an infants diaper may darken and can turn almost black after
several hours. However, many persons with this condition may not know
they have it until mid-adulthood (around age 40), when joint and other
problems occur.
Phenylalanine
hydroxylase
TYROSINE
Tyrosine aminotransferase
4-HYDROXYPHENYLPYRUVIC
ACID
4Hydroxyphenylpyruvi
c acid dioxygenase
Homogentisate 1,2dioxygenase
HOMOGENTISIC
ACID
MALEYLACETOACETIC
ACID
ALKAPTONURI
A
TREATMENT:
Some patients benefit from high-dose vitamin C.