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

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

    Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V.

    Source

    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.

    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.

    PMID:
    18593870
    [PubMed - indexed for MEDLINE]

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