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. 2008 Jan;53(1):31-2.
doi: 10.4103/0019-5154.39740.

Hartnup disease

A B Patel  1 , A S Prabhu
Affiliations

Hartnup disease

A B Patel et al. Indian J Dermatol. 2008 Jan.

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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Conflict of interest statement

Conflict of Interest: Nil.

Figures

Fig. 1
Fig. 1
Lesions on lower limb
Fig. 2
Fig. 2
Sun-exposed lesions on the face, sparing the eyelids and upper surface of the orbit
Fig. 3
Fig. 3
Lesions on the hands and face; hyperpigmented and crusted plaques with fissures
See this image and copyright information in PMC

References

    1. Baron DN, Dent CE, Harris H, Hart EW, Jepson JB. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria and other bizarre biochemical features. Lancet. 1956;271:421–8. - PubMed
    1. Nozaki J, Dakeishi M, Ohura T, Inoune K, Manabe M, Wada Y, et al. Homozygosity mapping to chromosome 5 p 15 of a gene responsible for Hartnup Disorder. Biochem Biophys Res Commun. 2001;284:255–60. - PubMed