{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T15:54:54Z","timestamp":1779206094625,"version":"3.51.4"},"reference-count":19,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Pompe\u2019s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi>\u03b1<\/mml:mi><\/mml:mrow><\/mml:math>-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\u2019s 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&gt;G (p.Tyr148*) in exon 2 and c.2238G&gt;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.<jats:italic>Conclusion<\/jats:italic>. In patients with late-onset adult Pompe\u2019s 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.<\/jats:p>","DOI":"10.1155\/2014\/926510","type":"journal-article","created":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T16:52:36Z","timestamp":1404233556000},"page":"1-6","source":"Crossref","is-referenced-by-count":3,"title":["Late-Onset Glycogen Storage Disease Type II (Pompe\u2019s Disease) with a Novel Mutation: A Malaysian Experience"],"prefix":"10.1155","volume":"2014","author":[{"given":"Hiew","family":"Fu Liong","sequence":"first","affiliation":[{"name":"Department of Neurology, Kuala Lumpur General Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siti Aishah","family":"Abdul Wahab","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Protein Unit, Institute for Medical Research (IMR), Jalan Pahang, 50586 Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusnita","family":"Yakob","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Protein Unit, Institute for Medical Research (IMR), Jalan Pahang, 50586 Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngu","family":"Lock Hock","sequence":"additional","affiliation":[{"name":"Department of Genetics, Kuala Lumpur General Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wong Kum","family":"Thong","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Malaya, Lembah Pantai, 50603 Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanthi","family":"Viswanathan","sequence":"additional","affiliation":[{"name":"Department of 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