2. Academic Validation
  3. Hartnup disease

Hartnup disease

  • Indian J Dermatol. 2008 Jan;53(1):31-2. doi: 10.4103/0019-5154.39740.
A B Patel 1,  A S Prabhu
Affiliations

Affiliation

  • 1 Department of Pediatrics, Clinical Epidemiology Unit, Indira Gandhi Government Medical College, Nagpur, India. [email protected]
PMID: 19967017 DOI: 10.4103/0019-5154.39740
Abstract

A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective transport of neutral amino acid transporter in the kidneys and intestine resulting in failure of transport of tryptophan and other neutral (ie, monoaminomonocarboxylic) alpha-amino acids in the small intestine and the renal tubules.

Keywords

Hartnup disease; pellagra; tryptophan.

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