Pelagra endógena e ataxia cerebelar sem aminoacidúria: doença de Hartnup?

Abstract

A seven-year-old boy with history of convulsion, cutaneous hyperpigmentation in sun-exposed areas and recurrent episodes of cerebellar ataxia is presented. Once established the clinical diagnosis of Hartnup disease, treatment with nicotinamide was started, with improvement. Laboratorial results did not confirm aminoaciduria nor other identified metabolic changes. In Hartnup disease, defective renal and intestinal transport of neutral amino acids occurrs, resulting in reduction of tryptophan to produce to nicotinamide. Symptomatic cases present with intermittent episodes of cerebellar ataxia, pellagra-like skin rash and mental disturbances. Urinary chromatographic amino acid pattern confirms diagnosis; however, cases compatible with Hartnup disease, but without aminoaciduria, have been reported.Resumo: Menino, 7 anos, com história de convulsão, hiperpigmentação cutânea em áreas de exposição solar e episódios recorrentes de ataxia cerebelar. Estabelecido diagnóstico clínico de doença de Hartnup, foi tratado com nicotinamida, com melhora. Análises não confirmaram aminoacidúria ou outras alterações metabólicas. Na doença de Hartnup ocorre defeito no transporte renal e intestinal de aminoácidos neutros, reduzindo triptofano disponível para produção de niacina. Cursa com ataxia cerebelar intermitente, erupções cutâneas pelagróides e distúrbios mentais. Aminoacidúria em cromatografia urinária confirma diagnóstico, porém são descritos casos compatíveis com doença de Hartnup sem aminoacidúria. Palavras-chave: Aminoacidúria renal; Doença de Hartnup; Pelagra An Bras Dermatol. 2006;81(5):461-4.

Protective Effects of Nicotinamide on Mice Offspring Exposed to Cyclophosphamide during Pregnancy

“…They also play a key role in oxidative and nonoxidative mechanisms of great importance for the correct maintenance and implementation of the metabolic processes of the cells and they also act to modulate the activity of sirtuin enzymes, also called silent regulatory information (SIR) that are deacetylases or ADP-ribosyl transferases, transferring ADP-ribose units to many proteins that will act in several metabolic and cellular signaling pathways that are involved in the transitional regulation, genome stability, neuronal protection and metabolic homeostasis [6]. Considering the actions of nicotinamide and its extensive empirical use [7][8][9] we evaluated its potential inducing effects of changes in animals in undergoing treatment with nicotinamide and its possible protective effects on toxic and teratogenic model induced by cyclophosphamide in mice during pregnancy.…”