title: Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
abstract: A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time. The bleeding was corrected after intravenous VK. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Olivier M
authors.initials: OM
authors.lastname: Vanakker
authors.forename: Kris
authors.initials: K
authors.lastname: De Coen
authors.forename: Laura
authors.initials: L
authors.lastname: Costrop
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Coucke
authors.forename: Piet
authors.initials: P
authors.lastname: Vanhaesebrouck
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001777:Blood Coagulation / Q000235:genetics; D019735:Carbon-Carbon Ligases / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012720:Severity of Illness Index; D014812:Vitamin K / Q000627:therapeutic use*; D006475:Vitamin K Deficiency Bleeding / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*
chemical_list: D000933:Antifibrinolytic Agents; D014812:Vitamin K; D004247:DNA; D019735:Carbon-Carbon Ligases; C020660:glutamyl carboxylase