【摘要】 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。更多还原

【Abstract】 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 breathing 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.更多还原