Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Alkaptonuria Terms and Definitions

Alkaptonuria

Medical Definition:	An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis.
Guide Notes:	an inborn error of amino acid metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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