甘肃地区1例短链酰基辅酶A脱氢酶缺乏症的诊断和基因突变分析

Diagnosis and gene mutation analysis of a case of short chain acyl CoA dehydrogenase deficiency in Gansu region

目的 探讨甘肃地区1例疑似新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)患儿的新发基因突变特点和诊断依据。方法 对2022年1—12月60150例新生儿利用串联质谱技术,检测滤纸片干血斑酰基肉碱水平,通过尿有机酸气相质谱检测技术及短链酰基辅酶A脱氢酶(ACADS)基因突变分析进一步诊断。结果 发现1例SCADD高度可疑患儿,该患儿血串联质谱丁酰基肉碱(C4),及其与丙酰基肉碱(C3)和乙酰基肉碱(C2)的比值均增高;尿气相质谱乙酰甘氨酸和乙基丙二酸明显增高;全外显基因测序发现短链酰基辅酶A脱氢酶(ACADS)基因c.164C>T和c.1030-7T>G两个位点突变。结论 通过血串联质谱技术可以筛出可疑SCADD患儿,配合尿有机酸测定和基因检测可明确诊断该代谢病,进而早干预,减少相关临床症状。

Objective To explore the characteristics and diagnostic basis of a new gene mutation in a child with suspected neonatal short-chain acyl-CoA dehydrogenase deficiency(SCADD)in Gansu province.Methods From January 2022 to December 2022,60150 newborns were collected,used tandem mass spectrometry technology to detect the level of acylcarnitine in dried blood of filter paper sheets,and then used urine organic acid gas chromatography-mass spectrometry detection technology and short chain acyl CoA dehydrogenase(ACADS)gene mutation analysis for further diagnosis.Results A child with high suspicion of SCADD was found,the ratio of butyryl carnitine(C4)to propionyl carnitine(C3)and acetyl carnitine(C2)increased in the blood of the child.Ethylmalonic acid and acetylglycine significantly increased in urine gas mass spectrometry.Mutation of c.164C>T and c.1030-7T>G were found in ACADS gene by full-explicit gene sequencing.Conclusion SCADD suspected children can be screened by blood tandem mass spectrometry.The metabolic disease can be clearly diagnosed by urine organic acid determination and gene detection,and early intervention can reduce clinical related symptoms.