Therapy for the sphingolipidoses

被引：14

作者：

Brady, RO ^{[1
]}

机构：

[1] NIH, Bethesda, MD 20892 USA

来源：

ARCHIVES OF NEUROLOGY | 1998年 / 55卷 / 08期

关键词：

D O I：

10.1001/archneur.55.8.1055

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Sphingolipidoses are human metabolic storage disorders characterized by the accumulation of harmful quantities of glycosphingolipids and phosphosphingolipids. These lipids have in common a hydrophobic portion of their structure called ceramide. In glycosphingolipids, various oligosaccharides are linked to ceramide through glycosidic bonds. An example is glucocerebroside, composed of ceramide and 1 molecule of glucose. Large quantities of glucocerebroside accumulate in tissues in patients with Gaucher disease. Higher oligosaccharide homologues contain additional neutral and acidic oligosaccharides. Among these are gangliosides that have 1 or more molecules of N-acetylneuraminic acid. A ganglioside called G(M2) accumulates in Tay-Sachs disease. Sphingomyelin is a phosphosphingolipid that accumulates in patients with Niemann-Pick disease.

引用

页码：1055 / 1056

页数：2

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