Isolated cytochrome C oxidase deficiency
Synonyms: Isolated COX deficiency | Isolated mitochondrial respiratory chain complex IV deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Isolated cytochrome C oxidase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.