鞘脂类贮积病：概述

The sphiningolipidoses: an overview.

作者信息

West H H

出版信息

Postgrad Med. 1977 Mar;61(3):90-3, 95. doi: 10.1080/00325481.1977.11712151.

DOI:10.1080/00325481.1977.11712151

Abstract

An outline of the pathways of catabolism of four sphingolipids to ceramide, along with structural details of a few constituents, serves as a framework for better understanding of the sphingolipidoses. The four sphingolipids are sulfatide, sphingomyelin, globoside, and ganglioside GM1. Diseases which can be incorporated into the scheme include Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, ceramide lactoside lipidosis, Tay-Sachs disease, generalized gangliosidosis, Fabry disease, and Sandhoff disease. Fucosidosis probably also belongs with this group. GM3 (hematoside) sphingolipodystrophy involves blocks in synthetic rather than catabolic pathways.

摘要

四种鞘脂分解代谢生成神经酰胺的途径概述，以及一些成分的结构细节，为更好地理解鞘脂贮积病提供了一个框架。这四种鞘脂分别是硫脂、鞘磷脂、红细胞糖苷脂和神经节苷脂GM1。可纳入该方案的疾病包括尼曼-匹克病、戈谢病、异染性脑白质营养不良、克拉伯病、神经酰胺乳糖苷脂沉积症、泰-萨克斯病、全身性神经节苷脂沉积症、法布里病和桑德霍夫病。岩藻糖苷贮积症可能也属于这一组。GM3（血苷）鞘脂营养不良涉及合成途径而非分解代谢途径的阻断。