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Medicina Cutanea Ibero-Latino-Americana 1990

[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].

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E R Da Gloria
J G Assunção
M A Costa

Keywords

Abstract

Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.

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