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Case Reports in Neurological Medicine
Volume 2014 (2014), Article ID 926510, 6 pages
Case Report

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

1Department of Neurology, Kuala Lumpur General Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia
2Molecular Diagnostics and Protein Unit, Institute for Medical Research (IMR), Jalan Pahang, 50586 Kuala Lumpur, Malaysia
3Department of Genetics, Kuala Lumpur General Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia
4Department of Pathology, University of Malaya, Lembah Pantai, 50603 Kuala Lumpur, Malaysia

Received 26 February 2014; Accepted 3 June 2014; Published 30 June 2014

Academic Editor: Massimiliano Filosto

Copyright © 2014 Hiew Fu Liong et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid -1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148*) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe’s disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.