頁籤選單縮合
題 名 | Muscle Phosphofructokinase Deficiency (Tarui's Disease): Report of a Case=肌肉磷酸果糖激酶缺乏症 |
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作 者 | 林宏琪; 楊千立; 王本榮; 沈友仁; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 98:3 1999.03[民88.03] |
頁 次 | 頁205-208 |
分類號 | 417.5832 |
關鍵詞 | 肌肉磷酸果糖激酶缺乏症; Tarui's disease; Phosphofructokinase; Rhabdomyolysis; Muscle glycogenosis; McArdle's disease; Myoglobinuria; |
語 文 | 英文(English) |
英文摘要 | A 14-year-old girl had an acute episode of rhabdomyolysis after vigorous exercise and seizures. Laboratory studies revealed elevated creatine phosphokinase (CPK) activity and myoglobinuria without acute renal failure, as well as mild indirect hyperbilirubinemia, and hyperuricemia. The elevated CPK activity, mild indirect hyperbilirubinemia, and hypercuricemia persisted during a 10-month follow-up period, during which chronic hemolysis without overt anemia was also noted. A muscle biopsy specimen from the left bicepts muscle revealed occasional muscle fiber necrosis and mild excess of glycogen accumulation on periodic acid-Schiff staining. Histochemical reactions were negative with phosphofructokinase (PFK) stain when fructose-6- phosphate was used as the substrate, but positive when fructose 1,6-bisphosphate was used as the substrate. These findings confirmed the diagnosis of muscle PFK deficiency (Tarui's disease), which is a defect of glycolysis in muscles and erythrocytes. Less than 40 such patients have been reported to date. When a specific metabolic myopathy is supsected in children with rhabdomyolysis, symptoms of hemolysis should also be sought to identify Tarui's disease. To the best of our knowledge, this is the first case of Tarui's disease identified in Taiwan. |
本系統中英文摘要資訊取自各篇刊載內容。