Ethylmalonic Encephalopathy (ETHE1)
Ethylmalonic encephalopathy is a rare autosomal recessive disease caused by pathogenic variants in the gene ETHE1. While it is found across multiple ethnicities, many patients have Mediterranean ancestry. Onset is in infancy, and clinical features include severe developmental delay and regression, intellectual disability, ataxia and seizures. Patients also have chronic diarrhea and failure to thrive, and death usually occurs by the age of 10. No genotype-phenotype correlation has been described.
For information about carrier frequency and residual risk, please see the residual risk table.