combined oxidative phosphorylation deficiency 3

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.

Signs and symptoms

• Hypotonia
• Decreased activity of mitochondrial complex III
• Increased circulating lactate concentration
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Neonatal hypotonia
• Severe lactic acidosis
• Bilateral tonic-clonic seizure
• Encephalopathy
• Elevated circulating creatine kinase activity

Also known as: COXPD3; Fatal mitochondrial disease due to COXPD3; concentric cardiomyopathy, hypotonia, and lactic acidosis; encephalomyopathy, respiratory failure, and lactic acidosis; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3