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 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.1007/s10545-015-9860-6
  • Title of Journal : Journal of inherited metabolic disease
  • Page Numbers: pp.115-24

Abstract

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.