Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysosomal α-glucosidase deficiency and the underlying genetic defect has increased significantly during the past decade. This minireview on GSD II was written at the occasion of The International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve, held in Osaka, Japan, July 1994. It is an update of current literature, but also includes original data from the collaborating authors on mutations occurring in the lysosomal α-glucosidase gene and on prenatal diagnosis by chorionic villus sampling. The genotype–phenotype correlation and the prospects for therapy are addressed.

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doi.org/10.1002/mus.880181414, hdl.handle.net/1765/66923
Muscle & Nerve
Department of Clinical Genetics

Reuser, A.J.J, Kroos, M.A, Hermans, M.M.P, Bijvoet, A.G.A, Verbeet, M.Ph, van Diggelen, O.P, … van der Ploeg, A.T. (1995). Glycogenosis type II (acid maltase deficiency). Muscle & Nerve, 18(14 S), S61–S69. doi:10.1002/mus.880181414