combined oxidative phosphorylation deficiency type 15 (COXPD15)

Pathology

• mitochondrial disease, neurologic disorder
• combined oxidative phosphorylation deficiency

Genetics

• autosomal recessive
• associated with defects in MTFMT

Clinical manifestations

• features of Leigh syndrome
• mild global developmental delay
• ataxia, incoordination
• speech & reading difficulties

Laboratory

• MTFMT gene mutation

Radiology

• white matter abnormalities
• T2-weighted hyperintensities in the basal ganglia, corpus callosum, & brainstem

More general terms

• combined oxidative phosphorylation deficiency (COXPD)

Database

• OMIM: https://mirror.omim.org/entry/614947]