Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M., Mulder-Bleile R., Burda P., Froese D. S., Suormala T., Ben Zeev B., ...More

Journal of inherited metabolic disease, vol.39, no.1, pp.115-24, 2016 (SCI-Expanded) identifier identifier identifier


Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients.