DECREASED BLOOD-COAGULATION ACTIVITIES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly re cognized group of inherited metabolic diseases. We report a Japanese b rother and sister with a CDG syndrome. Both patients showed decreased activities of blood coagulation Factor XI and of the coagulation inhib itor protein C. In one of them there was also a somewhat decreased act ivity of Factor IX and of antithrombin III. Isoelectric focusing of an tithrombin III revealed a decrease of negatively charged fractions and an increase of more cathodal bands. Furthermore, there was a discrepa ncy between activity and antigen level of Factor VIII and protein C. T he patients had an incidental deficiency of factor XII. This is the fi rst detailed report on blood coagulation systems in the CDG syndromes. These blood coagulation abnormalities may explain at least in part th e thrombotic or haemorrhagic complications of the CDG syndromes.