Vitamin K-dependent coagulation factors deficiency.
All vitamin K-dependent coagulation factors require normal function of gamma-glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1). Heritable dysfunction of gamma-glutamyl carboxylase or of the VKORC1 complex results in the secretion of poorly carboxylated vitamin K-dependent proteins that play a role in coagulation. The following review will summarize the clinical manifestations of vitamin K-dependent coagulation factors deficiency I and II and will provide a detailed explanation about the gene and protein structure, the function of the protein, and an analysis of the previously reported mutations. Laboratory assays used for diagnosis will be discussed, and treatment for various clinical settings will be recommended.
Brenner
Benjamin
B
Thrombosis and Hemostasis Unit, Institute of Hematology, Rambam Medical Center, and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel. b_brenner@rambam.health.gov.il
Kuperman
Amir A
AA
Watzka
Matthias
M
Oldenburg
Johannes
J
D001779:Blood Coagulation Factors / Q000235:genetics; D019735:Carbon-Carbon Ligases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D006899:Mixed Function Oxygenases / Q000235:genetics*; D010314:Partial Thromboplastin Time; D010641:Phenotype; D011296:Prenatal Diagnosis; D011300:Preoperative Care; D011517:Prothrombin Time; D014812:Vitamin K / Q000235:genetics / Q000627:therapeutic use; D014813:Vitamin K Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D064417:Vitamin K Epoxide Reductases
D001779:Blood Coagulation Factors; D014812:Vitamin K; D006899:Mixed Function Oxygenases; C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases; D019735:Carbon-Carbon Ligases; C020660:glutamyl carboxylase