Preferred Label : alkaptonuria;

MeSH definition : 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.;

MeSH synonym : alcaptonuria; alcaptonurias; homogentisic acid oxidase deficiency; homogentisic acidura;

Wikipedia link : https://en.wikipedia.org/wiki/Alkaptonuria;

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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.

http://www.alcap.fr/
http://www.alcap.org/
France
French
alkaptonuria
association of patients

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2007
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alkaptonuria

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