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

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 hist...

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Veröffentlicht in:	Neurology 1999-03, Vol.52 (4), p.851-853
Hauptverfasser:	AUSEMS, M. G. E. M, LOCHMAN, P, VAN DIGGELEN, O. P, PLOOS VAN AMSTEL, H. K, REUSER, A. J. J, WOKKE, J. H. J
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Electromyography Errors of metabolism Glucosidases - metabolism Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - genetics Humans Leukocytes - enzymology Medical sciences Metabolic diseases Muscles - enzymology Muscles - physiopathology
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Beschreibung
Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.52.4.851