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Cytochrome c oxidase deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Cytochrome c oxidase deficiency

Cytochrome c oxidase deficiency is a complex genetic disorder that impairs cellular energy production, primarily impacting energy-demanding tissues like the brain, muscles, and heart.

Overview

Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the brain, the heart, or the liver. Signs and symptoms usually begin before age 2 but can appear later in mildly affected individuals. Many individuals with this condition do not survive past childhood, although some with mild signs and symptoms live into adolescence or adulthood.

Symptoms & Clinical Features

The

Frequently Asked Questions

Early signs often include muscle weakness (hypotonia), feeding difficulties, developmental delays, seizures, and problems with heart function (cardiomyopathy) or liver function. Symptoms typically appear before age two.
Currently, there is no cure for cytochrome c oxidase deficiency. Treatment focuses on managing symptoms and providing supportive care
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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