The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report

J Inherit Metab Dis. 2006 Feb;29(1):212-3. doi: 10.1007/s10545-006-0185-3.


Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cytochrome-c Oxidase Deficiency / diagnosis*
  • Cytochrome-c Oxidase Deficiency / genetics*
  • Cytochrome-c Oxidase Deficiency / therapy*
  • DNA Mutational Analysis
  • Electrophoresis, Gel, Two-Dimensional
  • Female
  • Follow-Up Studies
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics*
  • Liver / enzymology
  • Mutation*
  • Phosphorylation