Combined oxidative phosphorylation defect type 2
Synonyms: COXPD2
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation neonatal limb edema and redundant skin on the neck (hydrops) developmental brain defects (corpus callosum agenesis ventriculomegaly) brachydactyly dysmorphic facial features with low set ears severe intractable neonatal lactic acidosis with lethargy hypotonia absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I II + III and IV in muscle and liver have been determined.
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
Newly diagnosed with
Combined oxidative phosphorylation defect type 2?
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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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