Edwards N L, Fox I H
Spec Top Endocrinol Metab. 1984;6:95-140.
There has been an explosion of knowledge in disorders of purine and pyrimidine metabolism during the last 20 years. During this time, more than 10 diseases have been discovered and their metabolic bases studied. Hyperuricemia and gout remain the most common clinical disorder. Rarely these disorders are explainable by an inherited enzyme abnormally, such as hypoxanthine-guanine phosphoribosyltransferase deficiency, phosphoribosyl-pyrophosphate synthetase deficiency, or glucose-6-phosphatase deficiency. The description of immunodeficiency syndromes in association with purine enzyme deficiency has led to a novel area of investigation encompassing the biochemical basis for immune function. Although less information is available concerning the other diseases associated with renal calculi, myopathy, anemia, and central nervous system dysfunction, further research will elucidate important metabolic relationships. These will no doubt expand our understanding of the pathogenesis of these disorders and provide innovative therapeutic approaches.
在过去20年里，嘌呤和嘧啶代谢紊乱方面的知识呈爆发式增长。在此期间，已发现10多种疾病，并对其代谢基础进行了研究。高尿酸血症和痛风仍然是最常见的临床病症。这些病症很少能由遗传性酶异常来解释，如次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏、磷酸核糖焦磷酸合成酶缺乏或葡萄糖 - 6 - 磷酸酶缺乏。与嘌呤酶缺乏相关的免疫缺陷综合征的描述引发了一个新的研究领域，该领域涵盖免疫功能的生化基础。尽管关于与肾结石、肌病、贫血和中枢神经系统功能障碍相关的其他疾病的信息较少，但进一步的研究将阐明重要的代谢关系。这无疑将扩展我们对这些病症发病机制的理解，并提供创新的治疗方法。
