ALKAPTONURIA (AKU)

Question 1

What is  ALKAPTONURIA (AKU)?

Accepted Answer

rare (1:100000 - 1:1000000, 1:19000 in Slovakia)
autosomal recessive
mutation in the homogentisate 1,2-dioxygenase gene
brown or dark colored urine was not observed in all patients; multi-system involvement with ochronotic arthropathy

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alkaptonurie (AKU); Ochronose, hereditäre

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 203500

Question 4

Which enzymes are involved?

Accepted Answer

Homogentisate 1,2-dioxygenase

Disease	ALKAPTONURIA (AKU)
Synonym	HOMOGENTISIC ACID OXIDASE DEFICIENCY
OMIM	203500 OMIM = Online Mendelian Inheritance of Men
Orphanet	56
Protein (UniProt)	Homogentisate 1,2-dioxygenase
ExPASy	1.13.11.5
Gene locus	3q13.33
ICD	E70.2
Summary	rare (1:100000 - 1:1000000, 1:19000 in Slovakia) autosomal recessive mutation in the homogentisate 1,2-dioxygenase gene brown or dark colored urine was not observed in all patients; multi-system involvement with ochronotic arthropathy
Laboratory findings	L-Tyrosine normal/inc (plasma) Ferric chloride reaction (urine) Homogentisic acid inc (urine) Homogentisic acid oxidase dec (liver)
Symptoms	ochronosis aortic valvular disease arthralgia arthritis brown or black colored urine cardiac involvement, cardiac defects skin, pigmentation urine color, abnormal heart involvement hemolysis methemoglobinemia onset, adulthood Organic acids, urine osteopenia pain, bones or joints pigmentation, skin and sclera urolithiasis, nephrolithiasis, kidney stones uveitis vertebral changes or anomalies X-ray, abnormalities