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.
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
Rimoldi M.;Zeviani M.;
2008
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.File in questo prodotto:
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