combined oxidative phosphorylation defect type 13

Rare Disease

MONDO:0013977

Also Known As

COXPD13PNPT1 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in PNPT1combined oxidative phosphorylation deficiency type 13combined oxidative phosphorylation deficiency 13

Definition

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.