关键词: 遗传代谢病；　短链酰基辅酶A脱氢酶缺乏症；　新生儿；　筛查

Abstract: 　Objective　To explore the relationship between genotype and phenotype of neonatal short-chain acyl-CoA dehydrogenase deficiency (SCADD). Method　The clinical data of SCADD in 7 children discovered by screening 296627 newborns in Qingdao from 2015 to 2018 were retrospectively analyzed. Results　During the study period, the number of suspected positive cases at the first screening was 4864, and the positive rate was 0.16%. Seven children were diagnosed with SCADD by genetic testing and the positive rate of diagnosis was 1/42375. Among the 7 children (4 males and 3 females), 5 known mutations including c.1029+89_90insC, c.1031A>G, c.1157G>A, c.164C>T and c.989G>A and 4 unknown mutations including c.1130C>T, c.1186G>A, c.445A>T and c.949A>G were detected by gene testing. Conclusions　SCADD genotype and hematuria tandem mass spectrometry screening results were consistent, but the relationship between genotype and clinical phenotype was not clear. Early diagnosis and treatment can improve the prognosis.

Key words: genetic metabolic diseases;　short-chain acyl-CoA dehydrogenase deficiency;　neonate;　screening