| 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 ) |