ABSTRACT: 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.
14 patients with EE were investigated for mutations in the ETHE1 gene.
Of the 14 patients, 5 were found to carry novel mutations.
This work expands our knowledge of the causative mutations of EE.
Journal of Medical Genetics 08/2008; 45(7):473-8. · 6.36 Impact Factor