A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.
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.
Department of Pediatrics, University of Leuven, Belgium.
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Van Geet
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Jaeken
D000293:Adolescent; D020152:Antithrombin III Deficiency; D001778:Blood Coagulation Disorders / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood*; D002241:Carbohydrates / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005173:Factor XI Deficiency / Q000235:genetics / Q000378:metabolism; D005260:Female; D006023:Glycoproteins / Q000378:metabolism*; D015844:Heparin Cofactor II / Q000172:deficiency; D006801:Humans; D007223:Infant; D008297:Male; D020151:Protein C Deficiency; D018455:Protein S Deficiency; D013577:Syndrome
D002241:Carbohydrates; D006023:Glycoproteins; D015844:Heparin Cofactor II