MeSH 搜索器

Hartnup Disease

An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
推出的年份: 1965
副标题
树号: C10.228.140.163.100.355, C12.050.351.968.419.815.885.625, C12.200.777.419.815.885.457, C12.950.419.815.885.625, C16.320.565.151.355, C16.320.565.189.355, C16.320.831.885.457, C18.452.132.100.355, C18.452.648.151.355, C18.452.648.189.355
MeSH 单一 ID: D006250
进入的组:
  • Neutral Amino Acid Transport Defect
  • Neutral Amino Acid Transport Disorder
  • Hartnup Disorder
  • Amino Acid Transport Disorder, Neutral
  • Transport Disorder, Neutral Amino Acid
  • Transport Disorder, Neutral Amino Acids

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