title: An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.
abstract: The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of the major neutral alpha-glucosidases in cultured fibroblasts or muscle cells from 26 patients with glycogenosis type II. The results indicate that there is no correlation between the expression of neutral alpha-glucosidase isoenzymes and the clinical phenotype of this disease.
authors.affiliation: Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.
authors.forename: A T
authors.initials: AT
authors.lastname: Van der Ploeg
authors.forename: M A
authors.initials: MA
authors.lastname: Kroos
authors.forename: D M
authors.initials: DM
authors.lastname: Swallow
authors.forename: A J
authors.initials: AJ
authors.lastname: Reuser
mesh_terms: D002478:Cells, Cultured; D004588:Electrophoresis, Cellulose Acetate; D004592:Electrophoresis, Starch Gel; D005347:Fibroblasts; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009132:Muscles / Q000378:metabolism; D010641:Phenotype; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases