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Hartnup Disease Summary

Description: 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.

Also Known As: Hartnup Disorder; Neutral Amino Acid Transport Defect; Transport Disorder, Neutral Amino Acids; Amino Acid Transport Disorder, Neutral; Neutral Amino Acid Transport Disorder Show All >>

Networked: 65 relevant articles (1 outcomes, 5 trials/studies) for this Disease

Key Drugs and Agents for Hartnup Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. tryptophan ethyl ester : 1 outcome in 1 result : IBA
  2. Amino Acids : 2 studies in 17 results : FDA 53
  3. Tryptophan (L-Tryptophan) : 1 study in 9 results : FDA 30
  4. Histidinemia : 1 study in 2 results : IBA
  5. Diamond : 1 study in 1 result : IBA
  6. Transferases : 1 study in 1 result : IBA
  7. Carnitine (L-Carnitine) : 1 study in 1 result : FDA 9 Generic
  8. Methylmalonic acidemia : 1 study in 1 result : IBA
  9. Systemic carnitine deficiency : 1 study in 1 result : IBA
  10. N-acetyltalosaminuronic acid (NAT) : 1 study in 1 result : IBA
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Diseases Related to Hartnup Disease

  1. Maple Syrup Urine Disease
  2. Propionic Acidemia
  3. Tyrosinemias (Tyrosinemia)
  4. Citrullinemia
  5. Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
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Key Therapies for Hartnup Disease

Efficacy Chart >>

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