combined oxidative phosphorylation deficiency 23

A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozy

A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.

Signs and symptoms

• Increased circulating lactate concentration
• Cytochrome C oxidase-negative muscle fibers
• Lactic acidosis
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Hypertrophic cardiomyopathy
• Global developmental delay
• Hypotonia
• Seizure
• Dilated cardiomyopathy

Also known as: COXPD23