Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.6 (thromboplastin)
 13,278 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A flock of Rambouillet sheep was examined because of increased lamb mortality caused by ineffective hemostasis at parturition. Neonatal-affected lambs presented with inadequate hemostasis at the umbilicus, pale mucus membranes, and markedly prolonged activated clotting time. Affected lambs had consistently prolonged 1-stage prothrombin times and activated partial thromboplastin times that supported a defect in the common pathway or defects in both the intrinsic and extrinsic pathway of the coagulation cascade. Decreased activity of vitamin K-dependent procoagulant factors II, VII, IX, and X in male and female lambs suggested either a defect of the hepatic enzyme gamma-glutamyl carboxylase, or vitamin K(1) 2,3 epoxide reductase. Affected lamb hepatic gamma-glutamyl carboxylase activity was markedly decreased compared with that of age- and sex-matched control lambs, while vitamin K(1) 2,3 epoxide reductase and glucose-6-phosphatase activities were similar between an affected and normal lamb. Subcutaneous vitamin K(1) supplementation did not increase vitamin K-dependent procoagulant factor activities in 3 lambs administered vitamin K(1) daily. These data confirm defective gamma-glutamyl carboxylase activity as the cause of impaired coagulation of sheep in this flock. This flock represents the only viable animal model of hereditarily defective gamma-glutamyl carboxylase activity.
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PMID:Defective gamma-glutamyl carboxylase activity and bleeding in Rambouillet sheep. 1696 51

Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis.
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PMID:Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation. 3053 3