Dupond J L, Robert M, Carbillet J P, Leconte des Floris R
Nouv Presse Med. 1977 Sep 17;6(30):2665-8.
Tarui's diseases affecting a brother and sister was studied. On the basis of these case, a general review is undertaken of this rare muscle glycogenosis, of which only six cases have been reported up to the present. This study underlines the characteristics of the responsible phosphofructokinase deficiency which has the special characteristic of manifesting itself at one and the same time in muscle by a picture of non-traumatic rhabdomyolysis and in the red cells by haemolysis, in most cases sub-clinical. This sign, clinically evident in the first case, was nevertheless a fundamental diagnostic element. In the context of the diagnostic criteria, emphasis is placed upon the value of the measurement of blood lactic acid after effort, the results of which, in conjunction with an increase in muscle enzymes, confirm the presence of a true muscle glygenosis. Enzyme studies indicate the nature of the latter.
对一对患有塔瑞氏病的兄妹进行了研究。基于这些病例，对这种罕见的肌肉糖原贮积症进行了全面回顾，截至目前仅报告了6例。本研究强调了导致该病的磷酸果糖激酶缺乏症的特征，其特殊之处在于，在大多数情况下为亚临床状态时，在肌肉中表现为非创伤性横纹肌溶解，在红细胞中表现为溶血，且在同一时间出现。这一症状在首例病例中临床上很明显，不过仍是一个重要的诊断依据。在诊断标准方面，重点强调了运动后血乳酸测量的价值，其结果与肌肉酶升高相结合，证实了真正的肌肉糖原贮积症的存在。酶学研究表明了后者的性质。
