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

Ausems, M G; Lochman, P; van Diggelen, O P; Ploos van Amstel, H K; Reuser, A J; Wokke, J H

Ausems, M G; Lochman, P; van Diggelen, O P; Ploos van Amstel, H K; Reuser, A J; Wokke, J H.

Affiliation

Ausems MG; Center for Medical Genetics, University Hospital Utrecht, The Netherlands.

Neurology ; 52(4): 851-3, 1999 Mar 10.

Article in En | MEDLINE | ID: mdl-10078739

ABSTRACT

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.

Subject(s)

Glucosidases/metabolism; Glycogen Storage Disease Type II/diagnosis; Age of Onset; Electromyography; Glycogen Storage Disease Type II/genetics; Humans; Leukocytes/enzymology; Muscles/enzymology; Muscles/physiopathology

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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Glucosidases Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Neurology Year: 1999 Type: Article Affiliation country: Netherlands

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