combined oxidative phosphorylation deficiency type 4

(redirected from COXPD4)

combined oxidative phosphorylation deficiency type 4

A rare hereditary condition (OMIM:610678) characterised by neonatal lactic acidosis, rapidly progressive encephalopathy, severely reduced mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.
 
Molecular pathology
Defects of TUFM, which encodes a protein that promotes GTP-dependent binding of aminoacyl-tRNA, cause combined oxidative phosphorylation deficiency type 4.