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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Brain Diseases, Metabolic, Inborn / genetics*
  • Brain Diseases, Metabolic, Inborn / metabolism
  • Carnitine / analogs & derivatives
  • Carnitine / metabolism
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mitochondrial Proteins / genetics*
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation, Missense*
  • Nucleocytoplasmic Transport Proteins / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Sequence Alignment

Substances

  • ETHE1 protein, human
  • Mitochondrial Proteins
  • Nucleocytoplasmic Transport Proteins
  • acylcarnitine
  • DNA
  • Carnitine