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Arquivos de Neuro-Psiquiatria

versão impressa ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.45 no.2 São Paulo jun. 1987

http://dx.doi.org/10.1590/S0004-282X1987000200011 

Recentes avanços em erros inatos do metabolismo

 

Inborn errors of metabolism: recent advances

 

 

Aron J. Diament

Professor Adjunto do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP), Chefe do Serviço de Neurologia Infantil do Hospital das Clínicas da FMUSP

 

 


RESUMO

Apresenta-se análise dos avanços concernentes aos erros inatos do metabolismo (EIM) sob 4 aspectos: 1) da compreensão geral dos EIM, principalmente relacionados aos mecanismos, à localização gênica e à manifestação dos genes pela heterogenidade genética; 2) aos aspectos clínicos, apresentando de forma resumida a descrição ou de novas variantes dos EIM já conhecidos ou de novos EIM; 3) ao diagnóstico, em que se apresentam os meios diagnósticos de laboratório atualmente disponíveis em nosso meio: seja a dosagem de marcadores genéticos, sejam os testes de triagem populacionais a nível de berçário, sejam detecções de heterozigotos, assim como o diagnóstico pré-natal; 4) aos aspectos terapêuticos, em que são apresentadas as variadas terapêuticas substitutivas, ou dietas especiais, ou ainda as técnicas de plasmaferese e leucoferese, apresentando, quanto a esta última, alguns resultados observados em 4 mucopolissacaridoses.


SUMMARY

Four aspeets of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinicai aspeets, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our country: dosage of some genetic markers (arylsulfatases, hexosaminidases, beta-glicosidase; beta-galactosidase and sphingomyelinase), newborn populational screening (for hyperphenylalaninemia, and hypothyroidism), heterozygote detection (for Tay-Sachs disease) and also some prenatal diagnosis; 4) therapeutic aspects presenting substitutive treatment, special diets, plasma pheresis and leucopheresis. The first results of 4 cases of mucopolysacharidosis treated with the last technic are presented.


 

 

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