BRANCHING ENZYME-DEFICIENCY GLYCOGENOSIS - STUDIES IN THERAPY

被引：57

作者：

FERNANDE.J

HUIJING, F

机构：

[1] Wilhelmina Kinderziekenhuis, University of Utrecht, Utrecht

[2] Department of Medical Enzymology, Laboratory of Biochemistry, University of Amsterdam

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1968年 / 43卷 / 229期

关键词：

D O I：

10.1136/adc.43.229.347

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The fifth case is reported of glycogen storage disease type IV, characterized by accumulation of an amylopectin-like glycogen and caused by a deficiency of branching enzyme. The abnormal glycogen and enzyme deficiency were demonstrated in leucocytes when the boy was 6 months old. A course of purified fungal oc-glucosidase administered intravenously resulted in a decrease in the glycogen content of the liver from 11 to 2%. The child died at 11 months with an infection.

引用

页码：347 / &

共 21 条

[1]

ABDULLAH M, 1963, BIOCHEM J, V89, pP35

[2]

ANDERSEN DH, 1956, LAB INVEST, V5, P11

[3]

BAUDHUIN P, 1964, LAB INVEST, V13, P1139

[4] LACK OF AN ALPHA-1,4-GLUCAN - ALPHA-1,4-GLUCAN 6-GLYCOSYL TRANSFERASE IN A CASE OF TYPE 4 GLYCOGENOSIS [J].