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

M J H Coenen; J A M Smeitink; M H Farhoud; L G J Nijtmans; R Rodenburg; A Janssen; E P M van Kaauwen; F J M Trijbels; L P van den Heuvel

doi:10.1007/s10545-006-0185-3

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.

Authors

M J H Coenen¹, J A M Smeitink, M H Farhoud, L G J Nijtmans, R Rodenburg, A Janssen, E P M van Kaauwen, F J M Trijbels, L P van den Heuvel

Affiliation

¹ Nijmegen Centre for Mitochondrial Disorder, Radboud University Nijmegen Medical Centre, The Netherlands.

PMID: 16601896
DOI: 10.1007/s10545-006-0185-3

Abstract

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