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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1?
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Advocacy Organizations
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
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