Thomson W H
Med Hypotheses. 1985 Jun;17(2):175-89. doi: 10.1016/0306-9877(85)90144-6.
A wide range of different disturbances characteristic of Duchenne muscular dystrophy (DMD) can be attributed to a fundamental chronic shortage of intracellular adenosine 5'-triphosphate (ATP), in turn arising from a basic lack of total adenylate. Purine conservation by the hypoxanthine isomer allopurinol, which promotes salvage and inhibits catabolism, greatly increases muscle ATP and total adenylate, with corresponding clinical benefit. Among subsequent confirmatory clinical trials some gave positive results, while others provided no information. Reasons given why these latter proved uninformative include asking questions either irrelevant and/or incapable of being answered, not least in older boys with too much shrinking fibrous tissue infiltrating too little remaining muscle. Informative results from any metabolic intervention can be expected only where sufficient muscle is left to respond, and this age-linked effect is everywhere evident in the positive trials. Thus, if an effect of allopurinol now seems apparent, and since it is extremely safe and does not enter the genetic material, it is suggested that it be administered shortly after birth before irreversible pathological changes occur. This implies neo-natal male mass screening, easily accomplished by a simple dried-blood spot test, and already carried out successfully elsewhere.
杜氏肌营养不良症（DMD）的一系列不同特征性紊乱可归因于细胞内5'-三磷酸腺苷（ATP）长期基本短缺，而这又源于总腺苷酸的根本缺乏。次黄嘌呤异构体别嘌呤醇可促进嘌呤补救并抑制分解代谢，从而节约嘌呤，能大幅增加肌肉中的ATP和总腺苷酸，并带来相应的临床益处。在随后的验证性临床试验中，一些取得了阳性结果，而另一些则未提供有效信息。对于后者未提供有效信息给出的原因包括提出的问题不相关和/或无法回答，尤其是在年龄较大的男孩中，纤维组织过度萎缩，剩余肌肉过少。只有在有足够的肌肉能够做出反应的情况下，才能期待任何代谢干预产生有效结果，而这种与年龄相关的效应在阳性试验中随处可见。因此，如果别嘌呤醇的效果现在看起来很明显，而且由于它极其安全且不会进入遗传物质，建议在出生后不久、不可逆的病理变化发生之前给药。这意味着要进行新生儿男性群体筛查，通过简单的干血斑检测很容易完成，而且在其他地方已经成功开展。
