title: Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
abstract: 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.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Sayuri
authors.initials: S
authors.lastname: Sukigara
authors.forename: Wen-Chen
authors.initials: WC
authors.lastname: Liang
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.forename: Takeshi
authors.initials: T
authors.lastname: Miyamoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics; D006006:Glycogen Synthase / Q000172:deficiency*; D006801:Humans; D018908:Muscle Weakness / Q000209:etiology*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D059352:Musculoskeletal Pain / Q000209:etiology; D009154:Mutation / Q000235:genetics; D013575:Syncope / Q000209:etiology* / Q000235:genetics
chemical_list: D006006:Glycogen Synthase