Harthan Aaron A
J Pediatr Pharmacol Ther. 2018 Nov-Dec;23(6):432-446. doi: 10.5863/1551-6776-23.6.432.
Inborn errors of metabolism comprise a wide array of diseases and complications in the pediatric patient. The rarity of these disorders limits the ability to conduct and review robust literature regarding the disease states, mechanisms of dysfunction, treatments, and outcomes. Often, treatment plans will be based on the pathophysiology associated with the disorder and theoretical agents that may be involved in the metabolic process. Medication therapies usually consist of natural or herbal products. Established efficacious pediatric doses for these products are difficult to find in tertiary resources, and adverse effects are routinely limited to single case reports. This review article attempts to summarize some of the more common inborn errors of metabolism in a manner that is applicable to pharmacists who will provide care for these patients.
先天性代谢缺陷在儿科患者中涵盖了各种各样的疾病和并发症。这些疾病的罕见性限制了开展和审查有关疾病状态、功能障碍机制、治疗方法及预后的丰富文献的能力。通常，治疗方案将基于与该疾病相关的病理生理学以及可能参与代谢过程的理论药物。药物治疗通常由天然或草药产品组成。在三级资源中很难找到这些产品已确定的有效儿科剂量，且不良反应通常仅限于单例报告。这篇综述文章试图以一种适用于将为这些患者提供护理的药剂师的方式，总结一些较为常见的先天性代谢缺陷。
