Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. Issue 7 (1st July 2008)

• Record Type: Journal Article
• Authors: Mineri, R; Rimoldi, M; Burlina, A B; Koskull, S; Perletti, C; Heese, B; von Döbeln, U; Mereghetti, P; Di Meo, I; Invernizzi, F; Zeviani, M; Uziel, G; Tiranti, V
• Is Part Of: Journal of medical genetics. Volume 45:Issue 7(2008)
• Page Start: 473
• Page End: 478
• Publication Date: 2008-07-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2008.058271
• Languages: English
• ISSNs: 1468-6244

Abstract

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.