Conditions / Genetic
combined oxidative phosphorylation deficiency 10
info · Genetic
A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.
Signs and symptoms
- Metabolic acidosis
- Lactic acidosis
- Bradycardia
- Increased circulating lactate concentration
- Oligohydramnios
- Hypertrophic cardiomyopathy
- Intrauterine growth retardation
- Poor speech
- Failure to thrive
- Global developmental delay
Also known as: COXPD10; infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency