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Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome
N Okamoto1, Y Wada, M Kobayashi
1Department of Planning and Research, Osaka Medical Center, Japan.
Insights
Carbohydrate-deficient glycoprotein (CDG) syndromes are inherited metabolic diseases. This study details blood coagulation abnormalities in CDG patients, potentially explaining associated bleeding or clotting complications.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- Carbohydrate-deficient glycoprotein (CDG) syndromes represent a novel class of inherited metabolic disorders.
- These syndromes are characterized by a wide range of clinical manifestations due to defects in protein glycosylation.
Observation:
- A Japanese brother and sister diagnosed with a CDG syndrome were studied.
- Both patients exhibited reduced activity of blood coagulation Factor XI and the coagulation inhibitor protein C.
- One patient also showed decreased activity of Factor IX and antithrombin III, with altered antithrombin III fractions observed via isoelectric focusing.
Findings:
- A discrepancy between the activity and antigen levels of Factor VIII and protein C was noted.
- Patients presented with incidental deficiencies in factor XII.
- This research provides the first comprehensive analysis of blood coagulation system alterations in CDG syndromes.
Implications:
- The identified blood coagulation abnormalities may contribute to the thrombotic and hemorrhagic complications observed in CDG syndromes.
- Understanding these hematological defects is crucial for managing patients with CDG syndromes.
- Further research into the specific mechanisms linking CDG to coagulation factor dysfunction is warranted.
Abstract:
The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly recognized group of inherited metabolic diseases. We report a Japanese brother and sister with a CDG syndrome. Both patients showed decreased activities of blood coagulation Factor XI and of the coagulation inhibitor protein C. In one of them there was also a somewhat decreased activity of Factor IX and of antithrombin III. Isoelectric focusing of antithrombin III revealed a decrease of negatively charged fractions and an increase of more cathodal bands. Furthermore, there was a discrepancy between activity and antigen level of Factor VIII and protein C. The patients had an incidental deficiency of factor XII. This is the first detailed report on blood coagulation systems in the CDG syndromes. These blood coagulation abnormalities may explain at least in part the thrombotic or haemorrhagic complications of the CDG syndromes.