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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.

Year introduced: 1965

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Tree Number(s): C10., 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 Unique ID: D006250

Entry Terms:

  • Transport Disorder, Neutral Amino Acid
  • Neutral Amino Acid Transport Defect
  • Transport Disorder, Neutral Amino Acids
  • Hartnup Disorder
  • Amino Acid Transport Disorder, Neutral
  • Neutral Amino Acid Transport Disorder

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