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A diagnostic protocol for adult-onset glycogen storage disease type II

被引：59
作者：
Ausems, MGEM
Lochman, P
van Diggelen, OP
van Amstel, HKP
Reuser, AJJ
Wokke, JHJ
机构：
[1] Univ Utrecht Hosp, Ctr Med Genet, NL-3508 AB Utrecht, Netherlands
[2] Erasmus Univ, Acad Hosp Rotterdam Dijkzigt, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[3] Univ Utrecht Hosp, Rudolf Magnus Inst Neurosci, Lab Neuromuscular Disorders, Utrecht, Netherlands
[4] Univ Utrecht Hosp, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands
来源：
NEUROLOGY | 1999年 / 52卷 / 04期
关键词：
D O I：
10.1212/WNL.52.4.851
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a clinical, biochemical, and genetic study of 18 patients with this disease. Measurement of acid alpha-glucosidase (GAA) activity in muscle and histopathologic analysis of muscle tissue appeared to have no additional value when GAA activity in leukocytes was clearly deficient. Our study showed that creatine kinase elevation is a sensitive marker of GSD II. A diagnostic protocol is formulated.
引用
收藏
页码：851 / 853
页数：3
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