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. 2008 Jul;45(7):473-8.
doi: 10.1136/jmg.2008.058271.

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri  1 , M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti
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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri et al. J Med Genet. 2008 Jul.

Abstract

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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