J Med Genet 45:473-478 doi:10.1136/jmg.2008.058271
  • Mutation report

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

  1. R Mineri1,
  2. M Rimoldi2,
  3. A B Burlina3,
  4. S Koskull4,
  5. C Perletti5,
  6. B Heese6,
  7. U von Döbeln7,
  8. P Mereghetti8,
  9. I Di Meo1,
  10. F Invernizzi1,
  11. M Zeviani1,
  12. G Uziel5,
  13. V Tiranti1
  1. 1
    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
  2. 2
    Unit of Biochemistry and Genetics, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
  3. 3
    Division of Metabolic Disorders, Department of Pediatrics, University Hospital, Padova, Italy
  4. 4
    Klinik für Neuropädiatrie, Behandlungszentrum Vogtareuth, Germany
  5. 5
    Unit of Child Neurology, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
  6. 6
    Division of Pediatric Genetics and Metabolism University of Florida, USA
  7. 7
    Centre for Inherited Metabolic Diseases, Karolinska University, Stockholm, Sweden
  8. 8
    Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan and Department of Chemistry, University of Sassari, Sassari Italy
  1. Dr V Tiranti, Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C. Besta, Via Temolo, 4, 20126 Milan, Italy; tiranti{at}
  • Received 27 February 2008
  • Revised 2 April 2008
  • Accepted 3 April 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.

Conclusions: This work expands our knowledge of the causative mutations of EE.


  • Funding: This work was supported by Fondazione Pierfranco e Luisa Mariani; MITOCIRCLE and EUMITOCOMBAT grants from the European Union Framework Program 6, FP6; Telethon-Italy (grant n. GGP07019).

  • Competing interests: None.