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  • metabolic defect of amino acid (alkaptonuria)
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  • Metabolic defect of amino acid (Alkaptonuria)
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AKU alkaptonuria
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alkaptonuria <biochemistry> Congenital absence of homogentisic acid oxidase, an enzyme that breaks down tyrosine and phenylalanine. Accumulation of homogentisic acid in homozygotes causes brown pigmentation of skin and eyes and damage to joints, urine blackens on standing.
Origin: Gr. Ouron = urine
(18 Nov 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Alkaptonuria - »õâ 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 :
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alkaptonuria a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
Ãâó: wordnet.princeton.edu/perl/webwn
alkaptonuria 尿黑酸症, An autosomal recessive condition in humans caused by the lack of an enzyme, homogentisic acid oxidase. Urine of homozygous individuals turns dark upon standing due to oxidation of excreted homogentisic acid. The cartilage of homozygous adults blackens from deposition of a pigment derived from homogentisic acid. Such individuals often develop arthritic conditions.
Ãâó: www.geocities.com/bioinfoweb/glossary/glossary.htm...
alkaptonuria Due to deficiency of homogentisic acid oxidase with features of ochronosis - pigmentation of articular cartilage, early osteoarthritis and calcification of intervertebral discs. Urine turns dark on standing.
Ãâó: www.ilar.org/Glossary/Glossary_a.htm
alkaptonuria Alkaptonuria (Ochronosis) Alkaptonuria is a rare inherited (genetic) disorder. The gene defect causes accumulation of homogentisic acid. The excess homogentisic acid causes dark discoloration of tissues and is known as ochronosis. Damage to j More Detail Info ...
Ãâó: www.medicineonline.com/Default.asp
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alkaptonuria a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
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