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A diagnostic protocol for adult-onset glycogen storage disease type II
M G Ausems1, P Lochman, O P van Diggelen
1Center for Medical Genetics, University Hospital Utrecht, The Netherlands.
Neurology
|March 17, 1999
Abstract:
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.