Mitochondrial Complex IV Deficiency (PET100)

Mitochondrial complex IV deficiency (PET100-related) is an autosomal recessive disorder caused by pathogenic variants in the gene PET100. The onset of this condition typically occurs shortly after birth; however, some affected individuals may present with more mild disease and later onset. Neurological symptoms may include seizures, hypotonia, and delayed psychomotor development. Brain abnormalities may be seen on neuroimaging. Most individuals with this condition die in infancy. This disorder is found in a higher frequency amongst individuals of Lebanese descent due to a founder variant. No clear genotype-phenotype correlation has been established.