combined oxidative phosphorylation deficiency 8

A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 ge

A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.

Signs and symptoms

• Pulmonary hypoplasia
• Reduced left ventricular ejection fraction
• Failure to thrive
• EEG abnormality
• Decreased activity of mitochondrial complex I
• Hypertrophic cardiomyopathy
• Decreased activity of mitochondrial complex IV
• Staring gaze
• Motor delay
• Metabolic acidosis

Also known as: COXPD8