Most rare clinical missense variants cannot currently be classified as pathogenic or benign.
Deficiency in human 5, 10-methylenetetrahydrofolate reductase (MTHFR), the most common …

Dear Editor, It is well established that folic acid (FA) supplementation can significantly
reduce the risk of birth defects, including neural tube defects (NTDs) 1 and congenital heart …

M ethylenetetrahydrofolate and clarified homocysteine our understanding metabolism.
reductase of MTHFR Research (MTHFR) deficiencies performed is a that key cause during …

Abstract The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the
folate metabolism pathway, the byproducts of which are involved in the remethylation of …

ABSTRACT Severe 5, 10‐methylenetetrahydrofolate reductase (MTHFR) deficiency is
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …

Common single nucleotide polymorphisms (SNPs; 677C> T and 1298A> C) in the
methylenetetrahydrofolate reductase gene (MTHFR) decrease the activity of the enzyme …

Studies of rare, inborn metabolic diseases establish that the phenotypes of some mutations
in vitamin-dependent enzymes can be suppressed by supplementation of the cognate …

Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …

In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been
identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation …

Objective An infant was investigated because of megaloblastic anaemia, atypical hemolytic
uraemic syndrome, severe combined immune deficiency, elevated blood levels of …