Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

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MeSH Record

Synonyms

6 entry terms
  • Amino Acid Transport Disorder, Neutral
  • Hartnup Disorder
  • Neutral Amino Acid Transport Defect
  • Neutral Amino Acid Transport Disorder
  • Transport Disorder, Neutral Amino Acid
  • Transport Disorder, Neutral Amino Acids

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1965

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.355w
  2. C12.050.351.968w.419w.815w.885.625w
  3. C12.200.777w.419w.815w.885.457w
  4. C12.950w.419w.815w.885.625w
  5. C16w.320w.565w.151w.355w
  6. C16w.320w.565w.189.355w
  7. C16w.320w.831w.885.457w
  8. C18.452w.132.100.355w
  9. C18.452w.648w.151w.355w
  10. C18.452w.648w.189.355w

AMA Style

References

  1. National Library of Medicine. Hartnup Disease. Medical Subject Headings (MeSH). 2026. Unique ID D006250. http://id.nlm.nih.gov/mesh/2026/D006250
  2. Hartnup Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Hartnup_disease
  3. Hartnup Disease. In: Wikidata. https://www.wikidata.org/wiki/Q200985