Cytochrome-C Oxidase Deficiency

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Complex IV Deficiency - Cytochrome C Oxidase Deficiency - Mitochondrial Complex IV Deficiency