Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Pediatr Int. 2019 Jun;61(6):551-557. doi: 10.1111/ped.13872. Epub 2019 Jun 14.


Background: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder that affects the degradation of medium-chain fatty acids. Few cases of MCADD have been documented to date in mainland China.

Methods: Medium-chain acyl-coenzyme A dehydrogenase deficiency was diagnosed in six patients (three girls and three boys) from six unrelated Chinese families at ages ranging from 10 days to 3 years old. The diagnosis was confirmed by the identification of a primary biomarker of serum octanoyl-carnitine (C8) and genetic pathogenic mutations.

Results: Only two patients were admitted because of vomiting, diarrhea, myasthenia, and coma; the other four patients were diagnosed via the newborn screening process. Six mutations were found in acyl-CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported.

Conclusions: Six Chinese cases of MCADD were identified. One novel mutation was found. c.449_452del and c.1085G>A were common mutations in this study.

Keywords: ACADM; medium-chain acyl-CoA dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase / blood
  • Acyl-CoA Dehydrogenase / deficiency*
  • Acyl-CoA Dehydrogenase / genetics*
  • Biomarkers / blood
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Child, Preschool
  • China
  • Female
  • Genetic Markers
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics
  • Male
  • Mutation
  • Neonatal Screening


  • Biomarkers
  • Genetic Markers
  • Acyl-CoA Dehydrogenase
  • octanoylcarnitine
  • Carnitine

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency

Associated data

  • GENBANK/NM_000016