A diagnostic protocol for adult-onset glycogen storage disease type II
| Autor: | M.G.E.M. Ausems, H.K. Ploos van Amstel, J.H.J. Wokke, P. Lochman, O. P. van Diggelen, A. J. J. Reuser |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Muscle tissue
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Disease Biology chemistry.chemical_compound Internal medicine Glycogen storage disease type II Leukocytes medicine Humans Age of Onset Glycogen Electromyography Glycogen Storage Disease Type II Muscles nutritional and metabolic diseases medicine.disease Endocrinology medicine.anatomical_structure chemistry biology.protein Creatine kinase Neurology (clinical) Age of onset Glucosidases |
| Zdroj: | Neurology. 52:851-851 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.52.4.851 |
| Popis: | Article 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 α-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. |
| Databáze: | OpenAIRE |
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