Isolated and Combined Remethylation Disorders
Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia.Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) , methionine synthase reductase (MTRR) , methionine synthase (MTR) , and MMADHC genes, and combined remethylation defects are the result of mutations in genes