This website provides information on patients with mutations in the ETHE1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ETHE1 gene is a multisystem disorder named Ethylmalonic encephalopathy (OMIM #602473) characterized by early onset severe brain damage associated to encephalopathy, generalized tonic–clonic seizures chronic haemorrhagic diarrhoea and vascular lesions with petechial purpura and orthostatic acrocyanosis.

Not all individuals with a mutation in the ETHE1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ETHE1 gene.

Valeria Tiranti, PhD, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan,Italy, valeria.tiranti@istituto-besta.it

Ivano Di Meo, PhD, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, ivano.dimeo@istituto-besta.it

Costanza Lamperti, MD, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, costanza.lamperti@istituto-besta.it