hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Rare Disease

MONDO:0012191

Also Known As

GFM1 combined oxidative phosphorylation deficiencyHepatoencephalopathy due to COXPD1combined oxidative phosphorylation deficiency caused by mutation in GFM1combined oxidative phosphorylation deficiency type 1hepatoencephalopathy due to combined oxidative phosphorylation defect type 1COXPD1Hepatoencephalopathy, early fatal progressivecombined oxidative phosphorylation deficiency 1

Definition

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.