Fogelfeld L, Sarova-Pinchas I, Meytes D, Barash V, Brok-Simoni F, Feigl D
Department of Medicine, Edith Wolfson Hospital, Holon, Israel.
Isr J Med Sci. 1990 Jun;26(6):328-33.
Tarui disease is a rare, genetically determined glycogen storage myopathy caused by the total lack of phosphofructokinase (PFK) enzymatic activity in the muscles and partially deficient enzymatic activity in the erythrocytes. We describe a patient with this disorder, who presented with exercise intolerance, painful cramps, elevation of muscle enzyme levels in the serum, compensated hemolysis with paradoxically elevated hemoglobin levels and gout with overproduction of uric acid. This patient had a partial hepatic uridine diphosphoglucuronate-glucuronyltransferase deficiency (Gilbert's syndrome). The coexistence of these two enzymatic deficiencies resulted in a complex clinical picture, especially during and after muscular effort. Screening of the patient's family revealed asymptomatic PFK deficiency in the erythrocytes of both parents and sister.
塔瑞氏病是一种罕见的、由基因决定的糖原贮积性肌病，其病因是肌肉中磷酸果糖激酶（PFK）酶活性完全缺乏，红细胞中酶活性部分缺乏。我们描述了一名患有这种疾病的患者，该患者表现为运动不耐受、疼痛性痉挛、血清中肌肉酶水平升高、代偿性溶血伴血红蛋白水平反常升高以及尿酸生成过多导致的痛风。该患者存在部分肝脏尿苷二磷酸葡萄糖醛酸 - 葡萄糖醛酸转移酶缺乏（吉尔伯特综合征）。这两种酶缺乏的共存导致了复杂的临床症状，尤其是在肌肉运动期间和之后。对患者家族的筛查发现，父母和妹妹的红细胞中均存在无症状的PFK缺乏。
