hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD1
related
GFM1 combined oxidative phosphorylation deficiency
exact
Hepatoencephalopathy due to COXPD1
exact
combined oxidative phosphorylation deficiency 1
related
combined oxidative phosphorylation deficiency caused by mutation in GFM1
exact
combined oxidative phosphorylation deficiency type 1
exact
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
exact
SPBC1306.01c