Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21704322.
- Also identified by DOI 10.1016/j.jpeds.2011.04.044.
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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.
Medical subject headings
- Carbon-Carbon Ligases
- DNA
- Polymorphism, Genetic
- Vitamin K
- Vitamin K Deficiency Bleeding