Methyltetrahydrofolate Reductase C677T Mutation and 4G/5G Plasminogen Activator Inhibitor-1 Polymorphism in a Child with Deep Vein Thrombosis

Methyltetrahydrofolate reductase (mthfr) enzyme is responsible for conversion of 5, 10- methyl tetrahydrofolate to 5-tetrahydrofolate for folic acid (folate) synthesis. one of the most common mthfr mutations is a nucleotide transition from c-to-t at position 677 that results in amino acid alteration from alanine to valine. coinheritance of mthfr mutation with plasminogen activator inhibitor-1 (pai-1) polymorphism is a rare event which could increase the risk of coagulation and thrombosis.