title: Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
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.
authors.affiliation: Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Mineri
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
authors.forename: S
authors.initials: S
authors.lastname: Koskull
authors.forename: C
authors.initials: C
authors.lastname: Perletti
authors.forename: B
authors.initials: B
authors.lastname: Heese
authors.forename: U
authors.initials: U
authors.lastname: von Döbeln
authors.forename: P
authors.initials: P
authors.lastname: Mereghetti
authors.forename: I
authors.initials: I
authors.lastname: Di Meo
authors.forename: F
authors.initials: F
authors.lastname: Invernizzi
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: V
authors.initials: V
authors.lastname: Tiranti
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000378:metabolism; D002331:Carnitine / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
chemical_list: C483228:ETHE1 protein, human; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; C116917:acylcarnitine; D004247:DNA; D002331:Carnitine