combined oxidative phosphorylation deficiency type 4 (COXPD4)

Pathology

• neonatal lactic acidosis
• rapidly progressive encephalopathy
• severely decreased mitochondrial protein synthesis
• combined deficiency of mtDNA-related mitochondrial respiratory chain complexes

Genetics

• associated with defects in TUFM

More general terms

• combined oxidative phosphorylation deficiency (COXPD)

Database

• OMIM: https://mirror.omim.org/entry/610678