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 )

Relationships
is a type of: amino acid metabolic disorder