Diament A J
Departamento de Neurologia da Faculdade de Medicina, Universidade de São Paulo.
Arq Neuropsiquiatr. 1987 Jun;45(2):177-87. doi: 10.1590/s0004-282x1987000200011.
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.
本文分析了先天性代谢缺陷（IEM）进展的四个方面：1）关于发病机制、基因定位和遗传异质性的总体理解；2）临床方面，描述已知IEM的新变体或新的IEM；3）我国目前使用的实验室诊断测试：一些遗传标记物（芳基硫酸酯酶、己糖胺酶、β-糖苷酶、β-半乳糖苷酶和鞘磷脂酶）的定量、新生儿群体筛查（高苯丙氨酸血症和甲状腺功能减退症）、杂合子检测（泰-萨克斯病）以及一些产前诊断；4）治疗方面，包括替代治疗、特殊饮食、血浆置换和白细胞去除术。介绍了采用最后一种技术治疗4例黏多糖贮积症的初步结果。
