PMID: 2496694Jan 1, 1989Paper

Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles

Pediatric Neurology
N TachiH Sugie

Abstract

We report a 5-year-old boy with lysosomal glycogen storage disease and normal acid maltase activity. This patient, the fourth reported in the literature, was referred to our hospital for evaluation of elevated serum GOT, GPT, and CK activities. He had neither muscle weakness nor atrophy. Echocardiography demonstrated marked thickening of the intraventricular septum and left ventricular wall which indicated hypertrophic cardiomyopathy. Biopsied skeletal muscle disclosed massive accumulation of glycogen and autophagic vacuoles. Electron microscopy of biopsied cardiac muscle revealed severe myofibrillar disruption with marked accumulation of free and intralysosomal glycogen. Activities of all major glycolytic enzymes in skeletal muscle, including acid maltase, were normal. It is unknown why muscle lysosomes appeared to be unable to digest the trapped glycogen despite the presence of acid maltase. Our findings illustrate the importance of performing skeletal muscle investigation during childhood in patients with hypertrophic cardiomyopathy.

Citations

Jul 6, 2001·Muscle & Nerve·S DiMauro, C Lamperti
Jan 1, 1990·Journal of Inherited Metabolic Disease·S W Moses
May 13, 2005·European Journal of Pediatrics·Christian BalmerAndrea Superti-Furga
Mar 1, 1995·Neuromuscular Disorders : NMD·N MurakamiI Nonaka
Nov 23, 2006·BMC Developmental Biology·Mira D LozykMichal Opas
Oct 15, 1996·Circulation·M L SchwartzS E Lipshultz
Jan 1, 1995·Muscle & Nerve. Supplement·S DiMauroL P Rowland
Oct 6, 1999·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·E Gilbert-Barness, L A Barness
Oct 13, 2001·Journal of Inherited Metabolic Disease·R M Dayan, D L Renaud

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