Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

Also known as: COXPD13, PNPT1 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in PNPT1, combined oxidative phosphorylation deficiency type 13, combined oxidative phosphorylation deficiency 13

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