Term Name: | alkaptonuria |
---|---|
Synonyms: | alcaptonuria, deficiency of homogentisicase, Homogentisate 1,2-dioxygenase deficiency |
Definition: | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
Ontology: | Human Disease [DOID:9270] ( DOID:9270 ) |