Heller S L, Kaiser K K, Planer G J, Hagberg J M, Brooke M H
Neurology. 1987 Jun;37(6):1039-42. doi: 10.1212/wnl.37.6.1039.
Exercise and work potential of a patient with coexistent myophosphorylase and myoadenylate deaminase (AMPDA) deficiency was compared with that of three patients with myophosphorylase deficiency alone. The patient with the combined defect failed to produce an abnormal rise in serum ammonia or hypoxanthine as seen in the other patients after forearm exercise. Maximum oxygen consumption and work rates during cycle ergometer testing were similar in all patients, but well below controls. The occurrence of two defects involving short-term energy metabolism in muscle presents an opportunity to define further the metabolic role of AMPDA.
将合并存在肌磷酸化酶和肌腺苷酸脱氨酶（AMPDA）缺乏症的患者的运动及工作能力，与三名仅患有肌磷酸化酶缺乏症的患者进行了比较。在进行前臂运动后，合并缺陷的患者未能像其他患者那样出现血清氨或次黄嘌呤异常升高的情况。在所有患者中，进行蹬车测力计测试时的最大耗氧量和工作率相似，但均远低于对照组。肌肉中出现涉及短期能量代谢的两种缺陷，为进一步明确AMPDA的代谢作用提供了契机。
