ETHE1 variants have been previously described as responsible for the development of ethylmalonic encephalopathy (EE), which is characterized by chronic diarrhea, recurrent petechiae, neurological degeneration, psychomotor delay, hypotonia, spastic tetraplegia, orthostatic acrocyanosis and Leigh-like syndrome [41,42]. The gene discussed is ETHE1; the disease is ethylmalonic encephalopathy.