摘要目的 分析4例戊二酸血症Ⅰ型患儿的临床资料特点,并探讨其基因突变类型.方法 对4例戊二酸血症Ⅰ型患儿进行磁共振成像检查.提取外周血基因组DNA,针对戊二酰辅酶A脱氢酶(glutaryl-CoA dehydrogenase,GCDH)基因设计特异性PCR引物,PCR扩增产物直接测序,确定GCDH基因的突变类型.行血串联质谱、尿气相色谱-质谱等检查.对患儿均给予特殊奶粉、左旋肉碱及维生素B2治疗,随访2～3年.结果 4例患儿均存在GCDH基因突变,1例为c.245G＞C(p.Arg82Pro)、IVS10-2A＞C杂合突变,其中c.245G＞C(p.Arg82Pro)来自父亲为新发现的GCDH基因突变类型;3例为IVS10-2A＞C纯合突变.结论 在中国温州地区,IVS10-2A＞C突变可能是GCDH常见的突变.

abstractsObjective To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl CoA dehydrogenase (GCDH) gene.Methods All of the patients underwent magnetic resonance imaging (MRI) analysis.Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry.Genomic DNA was extracted from peripheral blood samples.The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.Results Mutations of the GCDH gene were identified in all of the patients.Three had homozygous mutations.A recurrent mutation,IVS10-2A＞C,was found in the four unrelated families,while the mutation of c.245G＞C (p.Arg82Pro) was novel.Conclusion IVS10-2A＞C is likely a founder mutation for Chinese population in Wenzhou.