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  • DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; Phenotype and genotype expansion

    Author(s)
    Bursle, C
    Brown, D
    Cardinal, J
    Connor, F
    Calvert, S
    Coman, D
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2017
    Metadata
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    Abstract
    The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver ...
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    The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES.
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    Journal Title
    JIMD Reports
    Volume
    34
    DOI
    https://doi.org/10.1007/8904_2016_7
    Publication URI
    http://hdl.handle.net/10072/410255
    Collection
    • Journal articles

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