HARTNUP DISEASE

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 t...

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Detalles Bibliográficos
Autores principales: Patel, A B, Prabhu, A S
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784584/
https://www.ncbi.nlm.nih.gov/pubmed/19967017
http://dx.doi.org/10.4103/0019-5154.39740
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author Patel, A B
Prabhu, A S
author_facet Patel, A B
Prabhu, A S
author_sort Patel, A B
collection PubMed
description 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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spelling pubmed-27845842009-12-04 HARTNUP DISEASE Patel, A B Prabhu, A S Indian J Dermatol Case Report 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. Medknow Publications 2008 /pmc/articles/PMC2784584/ /pubmed/19967017 http://dx.doi.org/10.4103/0019-5154.39740 Text en © Indian Journal of Dermatology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Patel, A B
Prabhu, A S
HARTNUP DISEASE
title HARTNUP DISEASE
title_full HARTNUP DISEASE
title_fullStr HARTNUP DISEASE
title_full_unstemmed HARTNUP DISEASE
title_short HARTNUP DISEASE
title_sort hartnup disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784584/
https://www.ncbi.nlm.nih.gov/pubmed/19967017
http://dx.doi.org/10.4103/0019-5154.39740
work_keys_str_mv AT patelab hartnupdisease
AT prabhuas hartnupdisease

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