Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation

Mol Genet Metab. 2017 Jul;121(3):224-226. doi: 10.1016/j.ymgme.2017.05.002. Epub 2017 May 4.

Abstract

Patients carrying Acyl-CoA dehydrogenase 9 (ACAD9) mutations reported to date mainly present with severe hypertrophic cardiomyopathy and isolated complex I (CI) dysfunction. Here we report a novel ACAD9 mutation in a young girl presenting with severe hypertrophic cardiomyopathy, isolated CI deficiency and interestingly multiple respiratory chain complexes assembly defects. We show that ACAD9 analysis has to be performed in first intention in patients presenting with cardiac hypertrophy even in the presence of multiple assembly defects.

Keywords: ACAD9 mutation; Complex I deficiency; Hypertrophic cardiomyopathy; Multiple respiratory chain disassembly.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase / genetics
  • Acyl-CoA Dehydrogenases / blood
  • Acyl-CoA Dehydrogenases / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / metabolism*
  • Child
  • Electron Transport
  • Electron Transport Complex I / blood
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / genetics
  • Electron Transport Complex I / metabolism
  • Female
  • Humans
  • Infant
  • Mutation*

Substances

  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
  • ACAD9 protein, human
  • Electron Transport Complex I