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Updated: Jun 18, 2026

Anti-Nuclear Antibody Screening Using HEp-2 Cells
Published on: June 23, 2014
Hartnup disease
1Department of Pediatrics, Clinical Epidemiology Unit, Indira Gandhi Government Medical College, Nagpur, India. dr_apatel@yahoo.com
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.
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