MeSH 搜索器

Alkaptonuria

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.
推出的年份:
副标题
树号: C16.320.565.100.187, C18.452.648.100.187
MeSH 单一 ID: D000474
进入的组:
  • Homogentisic Acidura
  • Alcaptonuria
  • Alcaptonurias
  • Homogentisic Acid Oxidase Deficiency

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