Ethylmalonic encephalopathy is a rare early-onset mitochondrial disease caused by mutations in the ETHE1 gene. The inheritance is autosomal recessive. Patients show early-onset developmental delay and intellectual disability, infantile hypotonia, distonya, spasticity, generalized tonic-clonic seizures, petechial purpura, chronic haemorrhagic diarrhoea. Brain MRI reveals lesions in the basal ganglia, dentate nuclei and brainstem, cortical atrophy, as well as periventricular and cerebellar white matter changes that can evolve to diffuse leukoencephalopathy. Patients can display social isolation, speech delayed or absent, and failure to thrive. the majority of children die in the first decade. The estimated prevalence is <1/1.000.000.
ETHE1