A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

CV Geet, J Jaeken - Pediatric research, 1993 - nature.com
CV Geet, J Jaeken
Pediatric research, 1993nature.com
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 …
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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