[Recent advances in inborn errors of metabolism].
Four aspects of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinical aspects, 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-glycosidase; 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, plasmapheresis and leukapheresis. The first results of 4 cases of mucopolysaccharidosis treated with the last technic are presented.
Diament
A J
AJ
Departamento de Neurologia da Faculdade de Medicina, Universidade de São Paulo.
D000592:Amino Acid Metabolism, Inborn Errors; D002239:Carbohydrate Metabolism, Inborn Errors; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy
Recentes avanços em erros inatos do metabolismo.