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

摘要:

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。

Abstract:

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.1502G > A(p.R501Q) 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.