/combined oxidative phosphorylation deficiency

/mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Rare Disease

MONDO:0013865

Also Known As

COXPD10MTO1 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 10combined oxidative phosphorylation deficiency caused by mutation in MTO1combined oxidative phosphorylation deficiency type 10mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiencycardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosiscombined oxidative phosphorylation deficiency 10

Definition

A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.