alkaptonuria

info · Genetic · ICD-10: E70.29

An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Signs and symptoms

Elevated urinary homogentisic acid
Dark urine
Ochronosis
Low back pain
Limited hip movement
Kyphosis
Mitral valve calcification
Diminished physical functioning
Aortic valve calcification
Growth abnormality

Also known as: Homogentisate 1,2-dioxygenase deficiency; alcaptonuria