Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.
CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.
Department of Paediatrics, University of Catania, Italy.
A
A
Fiumara
R
R
Barone
P
P
Buttitta
R
R
Musso
L
L
Pavone
F
F
Nigro
J
J
Jaeken
D000293:Adolescent; D000328:Adult; D001779:Blood Coagulation Factors / Q000037:antagonists & inhibitors / Q000502:physiology*; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000097:blood*; D005260:Female; D006487:Hemostasis; D006801:Humans; D008297:Male; D010314:Partial Thromboplastin Time; D011517:Prothrombin Time
D001779:Blood Coagulation Factors