ETHE1 mutations are specific to ethylmalonic encephalopathy (original) (raw)
Lada Heberle2005, Journal of Medical Genetics
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2008
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.
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Medical GeneticsBiologyMedicineBiological SciencesPhylogenyMutationSingle Nucleotide PolymorphismWestern blotThree DimensionalAmino Acid ProfileAmino Acid SequenceMetabolic DisorderTwo dimensional Gel ElectrophoresisMalonatesMedicalMitochondrial ProteinsDNA mutational analysisallelesMedical and Health Sciences