Title: A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
Authors: Van Geet, Christel ×
Jaeken, Jacques #
Issue Date: Jul-1993
Series Title: Pediatric research vol:33 issue:5 pages:540-1
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.
ISSN: 0031-3998
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Pediatric Hematology & Oncology Section (-)
Molecular and Vascular Biology
× corresponding author
# (joint) last author

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