脂质代谢的遗传性分解代谢和合成代谢紊乱。

Heritable catabolic and anabolic disorders of lipid metabolism.

作者信息

Brady R O

出版信息

Metabolism. 1977 Mar;26(3):329-45. doi: 10.1016/0026-0495(77)90080-4.

Abstract

The principal manifestations and metabolic defects in ten heritable disorders of lipid metabolism are discussed. Facile procedures have been developed for the diagnosis of patients with these conditions, the identification of heterozygous carriers, and the prenatal detection of any of these diseases. Enzyme replacement appears promising for patients with Fabry's disease and Gaucher's disease who do not have central nervous system damage. The clinical and biochemical abnormalities that occur in patients with a novel inherited disorder of ganglioside anabolism are described.

摘要

本文讨论了十种遗传性脂质代谢紊乱的主要表现和代谢缺陷。现已开发出简便的方法用于诊断患有这些病症的患者、识别杂合子携带者以及对这些疾病中的任何一种进行产前检测。对于没有中枢神经系统损伤的法布里病和戈谢病患者，酶替代疗法似乎很有前景。本文还描述了一种新型遗传性神经节苷脂合成障碍患者所出现的临床和生化异常情况。