Abstract：
Inborn errors of metabolism (IEMs) are inherited biochemical/metabolic disorders that are commonly present in the immediate neonatal period. The aim of this retrospective study was to determine the incidence and distribution of IEMs in newborn infants delivered in our hospital and to evaluate its outcome. A total of 16 494 (99.9%) newborn infants were screened for IEMs. We found 29 newborn infants diagnosed with IEMs, representing an incidence of 1 per ~569 live births and a cumulative incidence of 176 per 100 000 live births of the IEM-positive newborn infants. We detected 11 different types of IEMs, and the top 6 categories were endocrinopathies followed by carbohydrates disorders, vitamin-responsive disorders, organic acid defects, and ketogenesis and ketolysis defects. This study does reflect upon the importance of educating the general population about the perils of Consanguineous Marriages (CMs) in order to reduce related disorders significantly, especially in families who have a history of IEMs.
摘要：
先天性代谢错误（IEM）是遗传性生化/代谢紊乱，通常存在于新生儿期。这项回顾性研究的目的是确定在我们医院分娩的新生儿中IEM的发生率和分布，并评估其结果。共对16494名(99.9%)新生儿进行了IEM筛查。我们发现29名被诊断为IEM的新生儿，IEM阳性新生儿的发病率为每569例活产1例，累计发病率为每100000例活产176例。我们检测到11种不同类型的IEM,前六类是内分泌疾病，其次是碳水化合物疾病，维生素反应性疾病，有机酸缺陷，和酮生成和酮分解缺陷。这项研究确实反映了对普通人群进行近亲婚姻（CMs）危险教育的重要性，以便显着减少相关疾病，特别是在有IEM历史的家庭中。
