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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

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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.
2018
2018
Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
Juvenile‐ or adult‐onset forms of severe 5,10‐methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated… 
2010
2010
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… 
2005
2005
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations… 
1998
1998
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… 
1994
1994
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.
A 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There were no… 
1994
1994
Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy
SummaryA 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There… 
1985
1985
Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.
1983
1983
Follow-up in a child with 5,10-methylenetetrahydrofolate reductase deficiency.
1981
1981
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
1978
1978
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
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