Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 930-933, 2018.
Article
em Zh
| WPRIM
| ID: wpr-776691
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Acil Coenzima A
/
Hipoglicemia
/
Mitocôndrias
/
Mutação
Limite:
Female
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Humans
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Infant
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2018
Tipo de documento:
Article