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Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy

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Journal Title:
Chinese Medical Journal
Key Word:
glycogen storage disease;cardiomyopathy

Abstract´╝Ü Glycogen storage disease type Ⅲ (GSD-Ⅲ) is an autosomal recessive inherited metabolic disorder caused by a deficiency in the glycogen debranching enzyme (amylo-l,6-glucosidase).1 The disease is characterized by hepatomegaly,fasting hypoglycemia,growth retardation,and progressive myopathy.1 It can also cause cardiomyopathy.1-5 We report a rare case of GSD-Ⅲ with metabolic cardiomyopathy mimicking obstructive hypertrophic cardiomyopathy, a sarcomere-protein gene disorder.

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