COX deficiency

Cytochrome c oxidase (COX) deficiency is the most commonly recognized respiratory chain defect in childhood. The disease is clinically heterogeneous with phenotypes including Leigh syndrome, hepatic failure and myopathies.

Cytochrome c oxidase deficiency (COX deficiency) is one of the most common respiratory-chain defects in humans. It has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX (cytochrome c oxidase).

COX deficiency has been associated with mitochondrial DNA mutations in COX I, II, and III with large-scale deletions of the mitochondrial genome and with point mutations in mitochondrial tRNA genes.

Synopsis

 isolated myopathy (16338876)

Etiology

 germline mutations in cytochrome c oxidase subunit genes

• mitochondrial genes
• nucleus COX6B1 gene germline mutations (18499082)

References

 Karadag A, Avci Z, Catal F, Odemis E. Cytochrome c oxidase deficiency in a child with isolated myopathy. Fetal Pediatr Pathol. 2005 May-Jun;24(3):149-53. PMID: 16338876

 Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D’Adamo P, Gasparini P, Zeviani M. Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. Am J Hum Genet. 2008 May 20. PMID: 18499082