段玉会 苏萍

    【摘要】 遗传代谢性疾病临床表现不典型，复杂多样，轻重不等，体内所有器官和系统均可受累，若不能早期诊断及时治疗，常可导致残疾，甚至危及生命。早期诊断是进行及时处理、挽救生命，避免和减少严重并发症及神经系统后遗症的关键。

    【关键词】 新生儿 遗传代谢性疾病 诊断 治疗

    Progress in Diagnosis and Treatment of Neonatal Inherited Metabolic Diseases/DUAN Yuhui， SU Ping. //Medical Innovation of China， 2021， 18(27)： -169

    [Abstract] The clinical manifestations of inherited metabolic diseases are complex and varied， ranging from weight to severity， all organs and systems in body can be involved atypical， if they are not diagnosed and treated in time， they can often be disabled or even life-threatening. Early diagnosis is the key to timely treatment， saving lives， avoiding and reducing serious complications and nervous system disability.

    [Key words] Neonate Inherited metabolic disease Diagnosis Treatment

    First-author’s address： The First People’s Hospital of Yulin， Yulin 537000， China

    doi：10.3969/j.issn.1674-4985.2021.27.041

    新生儿遗传代谢性疾病(inherited metabolic disease)也称先天性代谢异常(inborn error metabolim，IEM)，是指一大类具有生化代谢异常标志物的疾病，它是由于编码人体代谢的某些基因编码发生突变而导致其编码的合成的酶、受体、载体等蛋白功能缺陷，从而引起代谢产物异常 ......