UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia

J Hum Genet. 2017 Jul;62(7):729-731. doi: 10.1038/jhg.2017.22. Epub 2017 Mar 9.

Abstract

An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. Our study expands the few reported cases of CIII deficiency of nuclear origin.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / genetics
  • Child
  • Child, Preschool
  • Electron Transport Complex III / deficiency
  • Electron Transport Complex III / genetics*
  • Fibroblasts / pathology
  • Humans
  • Hypoglycemia
  • Infant, Newborn
  • Liver Failure
  • Mitochondrial Diseases
  • Mutation

Substances

  • Electron Transport Complex III

Supplementary concepts

  • Mitochondrial Complex III Deficiency