新生儿遗传代谢病筛查研究进展

  目的  系统搜集整理新生儿遗传代谢病串联质谱筛查病种信息，为拟开展新生儿遗传代谢病串联质谱筛查的地区纳入筛查病种提供参考和借鉴。  方法  综合运用文献分析和专家咨询法，对新生儿遗传代谢病串联质谱筛查病种进行综合评分和深入探讨。  结果  基于文献和专家咨询获取的新生儿遗传代谢病串联质谱筛查病种共53种，其中氨基酸代谢病23种，有机酸血症16种，脂肪酸氧化代谢病14种。病种综合评分排序前10的疾病分别为异戊酸血症、戊二酸血症Ⅰ型、中链酰基辅酶A脱氢酶缺乏症、枫糖尿症、同型半胱氨酸血症、丙酸血症、甲基丙二酸血症、苯丙酮尿症、瓜氨酸血症Ⅰ型、极长链酰基辅酶A脱氢酶缺乏症。  结论  建议将病种综合评分排序前10的疾病优先纳入新生儿遗传代谢病串联质谱筛查疾病谱，后续筛查病种可根据筛查检出情况及疾病发病状况进行适时调整。

Diversity in the incidence and spectrum of organic acidemias,fatty acid oxidation disorders,and amino acid disorders in Asian countries: selective screening vs. expanded newborn screening

  Objective   To systematically retrieve and sort out the information on neonatal genetic metabolic disease entities included in tandem mass spectrometry (MS/MS) screening in some countries and to provide a reference for entity expansion in the screening on neonatal genetic metabolic diseases with MS/MS in China.   Methods   With literature analysis and expert consultation, we assessed the priority order of the neonatal genetic metabolic diseases to be included in screening with MS/MS using a comprehensive score.   Results   Totally 53 neonatal genetic metabolic diseases were identified with the practicability of to be screened with MS/MS; of which, 23, 16, and 14 were aminoacidopathies, organic acidemias and fatty amino acid metabolic diseases, respectively. The diseases with top ten comprehensive scores in descending order are isovaleric acidemia, glutaric acidemia type Ⅰ, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, homocystinuria, propionic acidemia, methyl malonic acidemia, phenylketonuria, citrullinemia type Ⅰ, and very long-chain acyl-CoA dehydrogenase deficiency.   Conclusion   Based on the study results, we recommend that the ten neonatal genetic metabolic diseases with higher comprehensive scores ought to be included in MS/MS screening and the subsequent disease entities for the screening could be adjusted timely according to screening detection outcomes and the incidences of neonatal genetic metabolic diseases.