combined oxidative phosphorylation deficiency type 3 (COXPD3)

Pathology

• severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy
• severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of 3 of the oxidative phosphorylation complexes

Genetics

• associated with defects in TSFM

More general terms

• combined oxidative phosphorylation deficiency (COXPD)

Database

• OMIM: https://mirror.omim.org/entry/610505