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

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.

• Authors: C Van Geet, J Jaeken
• Journal: Pediatric research (Pediatr Res) Vol. 33 Issue 5 Pg. 540-1 (May 1993) ISSN: 0031-3998 [Print] United States
• PMID: 8511030 (Publication Type: Journal Article)

Chemical References

• Carbohydrates
• Glycoproteins
• Heparin Cofactor II

Topics

• Adolescent
• Antithrombin III Deficiency
• Blood Coagulation Disorders (etiology, genetics, metabolism)
• Carbohydrate Metabolism, Inborn Errors (blood)
• Carbohydrates (deficiency)
• Child
• Child, Preschool
• Factor XI Deficiency (genetics, metabolism)
• Female
• Glycoproteins (metabolism)
• Heparin Cofactor II (deficiency)
• Humans
• Infant
• Male
• Protein C Deficiency
• Protein S Deficiency
• Syndrome