Isolated cytochrome C oxidase deficiency
Engelsk navn: Isolated cytochrome C oxidase deficiency
Engelske synonym: Isolated COX deficiency,Isolated mitochondrial respiratory chain complex IV deficiency
Definisjon
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.
Fra Orphanet
ORPHA: 254905
Klassifiseringsnivå: Disorder
ICD-10: E88.8
