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Neuropediatrics 1995; 26(5): 235-237
DOI: 10.1055/s-2007-979762
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Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth Subtype

Helena Stibler1 , U. Stephani2 , Ulrike Kutsch3
  • 1Department of Neurology, Karolinska Hospital, Stockholm, Sweden,
  • 2Department of Pediatrics, Christian-Albrechts University, Kiel, Germany, and
  • 3Department of Medical Genetics, University of Ulm, Germany
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Publication Date:
19 April 2007 (online)

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Abstract

Two infants are described, who, we suggest, represent a fourth subtype of carbohydrate-deficient glycoprotein (CDG) syndrome. Both patients showed microcephaly and severe epilepsy with absent psychomotor development and similar minor dysmorphic features. There were no signs of liver dysfunction. Several glycoproteins in blood, including transferrin, α1-antitrypsin, antithrombin and thyroxine-binding globulin, demonstrated abnormal isoforms suggesting a partial deficiency of mainly one or two sialic acid residues. Both the clinical picture and the glycoprotein abnormalities were different from previously defined types of CDG syndrome.

Key words

CDG syndrome - Glycoproteins - Epilepsy - Microcephaly