Abstract：
Newborn screening (NBS) began a revolution in the management of biochemical genetic diseases, greatly increasing the number of patients for whom dietary therapy would be beneficial in preventing complications in phenylketonuria as well as in a few similar disorders. The advent of next generation sequencing and expansion of NBS have markedly increased the number of biochemical genetic diseases as well as the number of patients identified each year. With the avalanche of new and proposed therapies, a second wave of options for the treatment of biochemical genetic disorders has emerged. These therapies range from simple substrate reduction to enzyme replacement, and now ex vivo gene therapy with autologous cell transplantation. In some instances, it may be optimal to introduce nucleic acid therapy during the prenatal period to avoid fetopathy. However, as with any new therapy, complications may occur. It is important for physicians and other caregivers, along with ethicists, to determine what new therapies might be beneficial to the patient, and which therapies have to be avoided for those individuals who have less severe problems and for which standard treatments are available. The purpose of this review is to discuss the \"Standard\" treatment plans that have been in place for many years and to identify the newest and upcoming therapies, to assist the physician and other healthcare workers in making the right decisions regarding the initiation of both the \"Standard\" and new therapies. We have utilized several diseases to illustrate the applications of these different modalities and discussed for which disorders they may be suitable. The future is bright, but optimal care of the patient, including and especially the newborn infant, requires a deep knowledge of the disease process and careful consideration of the necessary treatment plan, not just based on the different genetic defects but also with regards to different variants within a gene itself.
摘要：
新生儿筛查（NBS）开始了生化遗传病管理的革命，大大增加了患者的数量，对他们的饮食治疗将有利于预防并发症的苯丙酮尿症以及一些类似的疾病。下一代测序的出现和NBS的扩展显著增加了生化遗传疾病的数量以及每年鉴定的患者数量。随着大量新的和提议的疗法，出现了治疗生化遗传疾病的第二波选择。这些疗法从简单的底物减少到酶替代，现在采用自体细胞移植进行离体基因治疗。在某些情况下,在产前期间引入核酸治疗以避免胎儿病可能是最佳选择。然而,和任何新疗法一样，可能会出现并发症。这对医生和其他护理人员来说很重要，和伦理学家们一起,为了确定哪些新疗法可能对患者有益，以及对于那些有较不严重问题并且有标准治疗方法的人，必须避免哪些治疗方法。这篇综述的目的是讨论已经实施多年的“标准”治疗计划，并确定最新和即将到来的治疗方法。协助医生和其他医护人员就“标准”和新疗法的启动做出正确的决定。我们已经利用几种疾病来说明这些不同方式的应用，并讨论了它们可能适用于哪些疾病。未来是光明的，但是对病人的最佳护理，尤其是新生婴儿，需要对疾病过程有深入的了解，并仔细考虑必要的治疗计划，不仅基于不同的遗传缺陷，还涉及基因本身的不同变异。
