combined oxidative phosphorylation defect type 2

Rare Disease

MONDO:0012510

Also Known As

COXPD2MRPS16 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in MRPS16combined oxidative phosphorylation deficiency type 2combined oxidative phosphorylation deficiency 2corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis

Definition

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.