GENERALIZED GANGLIOSIDOSIS - BETA-GALACTOSIDASE DEFICIENCY

被引：426

作者：

OKADA, S

OBRIEN, JS

机构：

[1] Department of Pathology, University of Southern California, School of Medicine

来源：

SCIENCE | 1968年 / 160卷 / 3831期

关键词：

D O I：

10.1126/science.160.3831.1002

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

A profound deficiency (10- to 30-fold) of β-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-β-D-galactopyranoside and ganglioside GM 1 labeled with C14 in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM1 and is the fundamental enzyme defect in generalized gangliosidosis.

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页码：1002 / &

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