Alkaptonuria
MESHD000474
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Synonyms
- Alcaptonuria
- Alcaptonurias
- Homogentisic Acid Oxidase Deficiency
- Homogentisic Acidura
Source last updated 2026-05-24T15:28:18.691Z