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.