Thomson W H
Knightswood Hospital, Glasgow, U.K.
Med Hypotheses. 1987 Oct;24(2):187-90. doi: 10.1016/0306-9877(87)90103-4.
Both direct and indirect experimental evidence independently confirms that inadequate muscle purine biosynthesis is the basic lesion in Duchenne muscular dystrophy (DMD), and indicates the presence of a partial defect at adenylosuccinate synthetase. Purine conservation by oral allopurinol gives only limited improvement, but continuous infusion of adenylosuccinate causes an immediate and lasting increase in physical strength, with restoration to normal of the abnormal serum enzyme elevations, creatine/creatinine metabolism, heart rate and ECG. Mass screening of male infants by a blood-spot test is proposed for early detection and treatment of all DMD cases, including the mutant one third with no family history. Prospects of the eventual disappearance of clinical DMD now appear possible.
直接和间接的实验证据均独立证实，肌肉嘌呤生物合成不足是杜氏肌营养不良症（DMD）的基本病变，并表明腺苷琥珀酸合成酶存在部分缺陷。口服别嘌醇进行嘌呤保存仅能带来有限的改善，但持续输注腺苷琥珀酸会使体力立即且持久地增强，同时异常升高的血清酶、肌酸/肌酐代谢、心率和心电图恢复正常。建议通过血斑试验对男婴进行大规模筛查，以便早期发现和治疗所有DMD病例，包括三分之一无家族病史的突变病例。现在看来，临床DMD最终消失的前景是可能的。
