mitochondrial complex IV deficiency nuclear type 22

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.

Signs and symptoms

• Encephalopathy
• Elevated brain lactate level by MRS
• Hypoglycemia
• Feeding difficulties in infancy
• Hyperprolinemia
• Elevated circulating hepatic transaminase concentration
• EEG abnormality
• Increased circulating pyruvate concentration
• Left ventricular hypertrophy
• Decreased activity of mitochondrial complex IV

Also known as: MC4DN22