mitochondrial complex IV deficiency nuclear type 20

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.

Signs and symptoms

• Increased circulating lactate concentration
• Pulmonary arterial hypertension
• Elevated circulating hepatic transaminase concentration
• Lethargy
• Failure to thrive in infancy
• Cardiomegaly
• Wide anterior fontanel
• Deeply set eye
• Hypotonia
• Hepatomegaly

Also known as: MC4DN20