mitochondrial complex IV deficiency, nuclear-type

Rare Disease

MONDO:0033885

Also Known As

Cytochrome C Oxidase Deficiencycytochrome-C oxidase deficiencycytochrome-c oxidase deficiency diseaseisolated COX deficiencyisolated mitochondrial respiratory chain complex IV deficiencymitochondrial complex IV deficiencymitochondrial respiratory complex IV deficiencyCOX deficiencyCox deficiencycomplex 4 mitochondrial respiratory chain deficiencycomplex IV deficiencydeficiency of mitochondrial respiratory chain complex4isolated cytochrome C oxidase deficiencymitochondrial complex 4 deficiency

Definition

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.