Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review.
- Author:
Dan MA
1
;
Dan YU
Author Information
1. Department of Rehabilitation Medicine, West China Second University Hospital of Sichuan University, Chengdu 610041, China. yd540@126.com.
- Publication Type:Case Reports
- MeSH:
Acyl Coenzyme A;
Female;
Humans;
Hypoglycemia;
Infant;
Mitochondria;
Mutation
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(11):930-933
- CountryChina
- Language:Chinese
-
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.
