Aminoacidopatias de interesse neurológico

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Abstract

As aminoácidopatias constituem o grupo mais numeroso dos erros inatos do metabolismo, sendo crescente seu número em vista das inúmeras cadeias metabólicas envolvendo os aminoácidos na economia humana. É apresentada uma classificação atualizada das principais aminoacidopatias que determinam sintomatologia neurológica e/ou mental. São revistos os principais métodos de diagnóstico, apontando-se as falhas de algumas metodologias. São abordadas algumas particularidades da fenilcetonúria, leucinose e acidemia propiônica, principalmente no que concerne à variação genética. Finalmente, são apresentadas duas aminoacidopatias recentemente descritas: a aciduria piroglutâmica e a deficiência da beta-metil-crotonil-CoA-carboxilase.The aminoacidopathies constitute the biggest group of inborn errors of metabolism, keeping growing in number, considering the amount of metabolic chains envolving the aminoacids in the human economy. The author try to presente an up to date classification of the main aminoacidopathies which determine neurological and/or mental symptomatology. As a next step, are presented a review on the main diagnostic methods, pointing out where some methodology fail. Some particularities in phenylketonuria, maple syrup and propionic aciduria, concerning to the genetic variation are reviewed. Finally, two aminoacidopathies recently described are presented: the pyroglutamic aciduria and the beta-methyl-crotonyl-CoA-carboxilase deficiency.

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APA

Diament, A. J. (1974). Aminoacidopatias de interesse neurológico. Arquivos de Neuro-Psiquiatria, 32(2), 93–103. https://doi.org/10.1590/s0004-282x1974000200002

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