Premium
An investigation of the possible influence of neutral α‐glucosidases on the clinical heterogeneity of glycogenosis type II
Author(s) -
PLOEG A. T. Van der,
KROOS M. A.,
SWALLOW D. M.,
REUSER A. J. J.
Publication year - 1989
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1989.tb01783.x
Subject(s) - glucosidases , phenotype , isozyme , lysosomal storage disorders , glycogen storage disease type ii , glycogen storage disease , biology , enzyme , biochemistry , chemistry , enzyme replacement therapy , medicine , disease , glycogen , gene
SUMMARY The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal α‐glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral α‐glucosidases. We have therefore analysed the activity of the major neutral α‐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 α‐glucosidase isoenzymes and the clinical phenotype of this disease.