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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis
  1. Jiddeke Matuja van de Kamp (jm.vandekamp{at}vumc.nl)
  1. Department of Clinical Genetics, VU University Medical Centre, Amsterdam, Netherlands
    1. Dirk J Lefeber
    1. Laboratory of Neurology and Pediatrics, University Medical Centre St Radboud, Nijmegen, Netherlands
      1. George JG Ruijter
      1. Department of Clinical genetics, Erasmus Medical Centre, Rotterdam, Netherlands
        1. Sylke J Steggerda
        1. Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands
          1. Nicolette S den Hollander
          1. Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
            1. Stefan M Willems
            1. Department of Pathology, Leiden University Medical Centre, Leiden, Netherlands
              1. Gert Matthijs
              1. Center for Human Genetics, University of Leuven, Leuven, Belgium
                1. Ben JHM Poorthuis
                1. Department of Medical Biochemistry, Academic Medical Center, Universiteit van Amsterdam, Amsterdam, Netherlands
                  1. Ron A Wevers
                  1. Laboratory of Neurology and Pediatrics, University Medical Centre St Radboud, Nijmegen, Netherlands

                    Abstract

                    There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between Congenital Disorders of Glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have been reported. We report on two more unrelated patients with CDG-Ia who presented with hydrops fetalis, providing definite evidence that non-immune hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the PMM2 gene probably fully inactivating the enzyme and one milder mutation with residual activity as had the patients reported in literature. The presence of one severe mutation might be required for the development of hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should be considered.

                    • CDG-Ia
                    • PMM2 gene.
                    • congenital disorders of glycosylation
                    • hydrops fetalis
                    • phosphomannomutase 2

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