PMID: 3322240Jun 1, 1987Paper

Recent advances in inborn errors of metabolism

Arquivos de neuro-psiquiatria
A J Diament

Abstract

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.

References

Nov 6, 1986·The New England Journal of Medicine·D A WengerJ N Thompson
Nov 6, 1986·The New England Journal of Medicine·J FoxL E Rosenberg
Sep 15, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·K M GibsonF Hanefeld

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