Abstract
ABSTRACT: The carbohydrate-deficient glycoprotein syndromes are a recently individualized group of genetic multisystemic disorders. A predominant feature is a severe involvement of the central and peripheral nervous system resulting in psychomotor retardation, seizures, ataxia, and, mostly after infancy, stroke-like episodes. The hallmark biochemical feature is a carbohydrate deficiency in a large number of serum glycoproteins. Because coagulation factors and inhibitors are also glycoproteins, we performed a systematic study of these factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome. All showed a decreased activity of factor XI and of the coagulation inhibitors antithrombin III and protein C. In five of seven patients more than 1 y old, there was also a (less pronounced) decrease of protein S and of heparin cofactor II. This combined coagulation inhibitor deficiency could explain the stroke-like episodes occurring in these children.
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Geet, C., Jaeken, J. A Unique Pattern of Coagulation Abnormalities in Carbohydrate-Deficient Glycoprotein Syndrome. Pediatr Res 33, 540–541 (1993). https://doi.org/10.1203/00006450-199305000-00024
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DOI: https://doi.org/10.1203/00006450-199305000-00024
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