Orphanet: Isolated cytochrome C oxidase deficiency
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Isolated cytochrome C oxidase deficiency

Disease definition

A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.

ORPHA:254905

Classification level: Disorder
  • Synonym(s):
    • Isolated COX deficiency
    • Isolated mitochondrial respiratory chain complex IV deficiency
  • Prevalence: -
  • Inheritance: Mitochondrial inheritance or Autosomal recessive 
  • Age of onset: -
  • ICD-10: E88.8
  • OMIM: 220110
  • UMLS: C0268237
  • MeSH: -
  • GARD: 48
  • MedDRA: -
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