A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Eur J Pediatr. 2010 Feb;169(2):201-5. doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14.

Abstract

Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Follow-Up Studies
  • Gene Frequency
  • Humans
  • Infant, Newborn
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Leigh Disease / metabolism
  • Magnetic Resonance Imaging
  • Male
  • Methylmalonic Acid / blood
  • Methylmalonic Acid / urine*
  • Mitochondrial Encephalomyopathies / diagnosis
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / metabolism
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Succinate-CoA Ligases / genetics*
  • Time Factors

Substances

  • DNA, Mitochondrial
  • Methylmalonic Acid
  • Succinate-CoA Ligases
  • SUCLA2 protein, human