Background: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.
Methods: 14 patients with EE were investigated for mutations in the ETHE1 gene.
Results: Of the 14 patients, 5 were found to carry novel mutations.
Conclusions: This work expands our knowledge of the causative mutations of EE.
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Funding: This work was supported by Fondazione Pierfranco e Luisa Mariani; MITOCIRCLE and EUMITOCOMBAT grants from the European Union Framework Program 6, FP6; Telethon-Italy (grant n. GGP07019).
Competing interests: None.