[Recent advances in inborn errors of metabolism].

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.

• Authors: A J Diament
• Journal: Arquivos de neuro-psiquiatria (Arq Neuropsiquiatr) Vol. 45 Issue 2 Pg. 177-87 (Jun 1987) ISSN: 0004-282X [Print] Germany
• Vernacular Title: Recentes avanços em erros inatos do metabolismo.
• PMID: 3322240 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Amino Acid Metabolism, Inborn Errors
• Carbohydrate Metabolism, Inborn Errors
• Humans
• Metabolism, Inborn Errors (diagnosis, metabolism, therapy)