期刊
NEUROMUSCULAR DISORDERS
卷 22, 期 2, 页码 162-165出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.08.008
关键词
Glycogen storage disease; Glycogen synthase; Glycogen; Syncope; Sudden death
资金
- Japan Society for the Promotion of Science
- Ministry of Health, Labor, and Welfare [20B-12, 20B-13]
- Neurological and Psychiatric Disorders of NCNP [23-4, 23-5, 23-6]
Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl, who had been suffering from recurrent attacks of exertional syncope accompanied by muscle weakness and pain since age 5 years until she died of cardiac arrest at age 12. Muscle biopsy at age 11 years showed glycogen depletion in all muscle fibers. Her loss of consciousness was gradual and lasted for hours, suggesting that the syncope may not be simply caused by cardiac event but probably also contributed by metabolic distress. (c) 2011 Elsevier B.V. All rights reserved.
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