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5,10-Methylenetetrahydrofolate reductase deficiency

Known as: 5' 10' Methylenetetrahydrofolate Reductase Deficiency, 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR), MTHFR 
A rare disorder associated with mental retardation, spasticity, and early death.
National Institutes of Health

Related topics

Related topics

9 relations
Amino acidemia disorder suspected:Prid:Pt:Bld.dot:NomConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomEnzyme DeficiencyHOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Insights into Severe 5,10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
5,10‐Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited disorder of folate metabolism and causes… 
2009
2009
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency
Betaine therapy was given for 2 years to a 2-year-old boy with 5,10-methylenetetrahydrofolate reductase deficiency. Used as a… 
Highly Cited
2007
Highly Cited
2007
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Highly Cited
2004
Highly Cited
2004
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among… 
2004
2004
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
Many authors have reported the effectiveness of betaine in the therapy of homocystinuria. However, the appropriate dose and… 
Highly Cited
2003
Highly Cited
2003
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency.
Nitrous oxide irreversibly oxidizes the cobalt atom of vitamin B12, inhibiting the cobalamin-dependent enzyme methionine synthase… 
2000
2000
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.
Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the… 
Highly Cited
1991
Highly Cited
1991
Homocystinuria due to 5,10‐methylenetetra‐hydrofolate reductase deficiency revealed by stroke in adult siblings
Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate… 
Highly Cited
1988
Highly Cited
1988
Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency
We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10… 
1985
1985
Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.
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