Combined oxidative phosphorylation defect type 2

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.

Also known as: COXPD2, MRPS16 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in MRPS16, combined oxidative phosphorylation deficiency type 2, combined oxidative phosphorylation deficiency 2, corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis

13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation defect type 2 itself.