1例HMGCS2基因突变致线粒体3-羟基-3-甲基戊二酰辅酶A合成酶2缺乏症

An infant with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency caused by mutations in the HMGCS2 gene

目的 对1例HMGCS2基因变异导致的罕见遗传病,线粒体3-羟基-3甲基戊二酰辅酶A合成酶2缺乏症(HMGCS2D)的突变基因进行检测分析。结果 8个月余男性患儿,发热、频繁呕吐起病,随后出现呼吸深促,精神烦躁,表现为严重代谢性酸中毒、难以纠正的低血糖、肝脏增大、肝功能异常、炎症指标升高等,经积极治疗后,仍快速进展至代谢病危象,多脏器功能衰竭死亡。基因检测发现HMGCS2基因1p12区域存在7号外显子c.1201G>T(Glu401*)、9号外显子c.1499G>A(p.Arg500His)两个杂合突变位点,确诊为HMGCS2D,此杂合突变国内目前未见报道。

Objective The clinical manifestations and genetic characteristics of a rare genetic disease caused by HMGCS2 gene variation,mitochondrial 3-hydroxy-3 methylglutaryl-CoA synthase 2 deficiency(HMGCS2D)were discussed.Results The 8-month-old male infant was admitted to the hospital with fever and frequent vomiting,followed by deep breath-ing and irritability,manifested by severe metabolic acidosis,difficult-to-correct hypoglycemia,enlarged liver,abnormal liver function,elevated inflammatory indicators,etc.After aggressive treatment,it still progresses rapidly to a metabolic disease crisis,with multiple organ failure dying.Genetic testing found that there were two heterozygous mutation sites in the HMGCS2 gene 1p12 region,exon 7 c.1201G>T(Glu401*),exon 9 c.1499G>A(p.Arg500His).HMCGS2D was confirmed,and this mutation has not been reported in China.