线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症1例并文献复习

Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review

线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症(HMCSD)是由于HMGCS2基因变异导致的罕见酮体生成障碍疾病。该研究报道1例该病。患者,女,8个月,因腹泻1周,发热、抽搐1天入院,病程中出现抽搐以及酸中毒、低血糖、肝功能损害、心肌损伤、凝血功能异常等表现。基因检测发现患者HMGCS2基因存在新发c.1502G>A(p.R501Q)纯合突变,生物信息学软件分析提示有害;尿有机酸分析提示4-羟基-6-甲基-2-吡喃酮明显增高,与基因检测结果吻合。患者最后确诊为HMCSD。

Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency（HMCSD） is caused by HMGCS2 gene mutation. This paper reports the clinical and genetic features of an infant with this disease. The 8-month-old female infant was admitted to the hospital with diarrhea for 1 week and fever and convulsion for 1 day. The child presented with seizures, acidosis, hypoglycemia, abnormal liver function, myocardial injury and coagulation dysfunction. The new homozygous mutation c.1502 G〉A（p.R501 Q） in the HMGCS2 gene was found in the infant by genetic testing. The mutant gene was found to be harmful by bioinformatics software analysis. Urine organic acid analysis indicated that 4-hydroxy-6-methyl-2-pyranone was significantly increased, which was consistent with the results of genetic testing. The infant was definitely diagnosed with HMCSD.