Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Synonyms: Hepatoencephalopathy due to COXPD1
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1?
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