研究人员发现,在200多种人类代谢遗传缺陷中,大多数是一种特异酶的功能缺乏。临床上表现的异常有很多可能的治疗方法,亦正如酶缺乏病的基础有多种分子病理学一样。P W Gasper等阐明和提出了一种有前途的方法,即骨髓移植法。某些疗法比较有效。例如,患丙氨酸丁氨酸硫醚合成酶缺乏的病人,用药理剂量的吡哆醇治疗后,生物化学值可转为正常;如果早期检出并进行治疗,就可能避免并发严重的高胱氨酸尿并发症。同样,限制饮食蛋白(特别是 The researchers found that most of the more than 200 genetic defects in human metabolism are deficient in the specificity of a specific enzyme. Abnormal clinical manifestations There are many possible treatments, just as the basis of enzyme deficiency disease has a variety of molecular pathology. P W Gasper, etc. to clarify and propose a promising method, that is, bone marrow transplantation. Some therapies are more effective. For example, in patients with a deficiency of alanine bisulfate synthase, the biochemical values ​​turn normal after treatment with a pharmacological dose of pyridoxine; if detected early and treated, it is possible to avoid severe concurrent high Cystine urine complications. Similarly, limit dietary protein (especially