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Pediatrics","bibliographic_titleLang":"en"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"ミトコンドリア3-ヒドロキシ-3-メチルグルタリル-CoA（HMG-CoA）合成酵素欠損症は，HMGCS2遺伝子の異常による常染色体劣性遺伝性ケトン体産生異常症であり，非ケトン性低血糖症，意識障害，肝腫大，代謝性アシドーシスを引き起こす．\n月齢7ヵ月，胃腸炎症状と経口摂取不良時に血糖値10mg/dL未満の低血糖を初発し，その後反復．低血糖発症時の検査で，肝逸脱酵素上昇と遊離脂肪酸／総ケトン体比11.2と著明高値を認め，HMGCS2遺伝子に，c.1175C>T（p.Ser392Leu）と c.437T>C（p.Met146Thr）の複合ヘテロ接合性変異を同定し， 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