Hartnup disease | Zendy

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Hartnup disease

Author(s) -

AB Patel,

AS Prabhu

Publication year - 2008

Publication title -

indian journal of dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.395

H-Index - 36

eISSN - 1998-3611

pISSN - 0019-5154

DOI - 10.4103/0019-5154.39740

Subject(s) - medicine , pellagra , aminoaciduria , niacin , diarrhea , amino acid , tryptophan , small intestine , ataxia , disease , gastroenterology , endocrinology , biochemistry , biology , psychiatry , urine

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.

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