Details
Topical Term
Alkaptonuria
Use for
Alcaptonuria
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
Alcaptonurias
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
Alcaptonurias
See Also
Note
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.
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