Mesh term Alkaptonuria
Browse to parent terms:Amino Acid Metabolism, Inborn Errors
Description
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.Search for this term in our Faculty Database
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