FAQ

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Known as: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, MTHFR DEFICIENCY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2016
01219772016

Related topics

Related topics

11 relations
5,10-Methylenetetrahydrofolate reductase deficiencyAbnormal behaviorAbnormal coordinationAutosomal recessive inheritance
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
Seizures
Cerebrovascular accident
Abnormal behavior
Muscle Weakness
Autosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
IMPORTANCE Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated… (More)
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2012
2012
Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.
The brain is particularly sensitive to folate metabolic disturbances, since methyl groups are critical for its functions… (More)
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2010
2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
OBJECTIVE To validate a 2-tier approach for newborn screening (NBS) of remethylation defects. STUDY DESIGN The original NBS… (More)
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2009
2009
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency.
Hyperhomocysteinemia (HHcy) can result from genetic or nutritional disturbances in folate metabolism. The most common genetic… (More)
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2005
2005
Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice.
BACKGROUND Genetic or nutritional disturbances in folate metabolism may affect embryonic development because of the critical role… (More)
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2004
2004
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.
MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized… (More)
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2000
2000
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when… (More)
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Highly Cited
1995
Highly Cited
1995
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
5-Methyltetrahydrofolate, the major form of folate in plasma, is a carbon donor for the remethylation of homocysteine to… (More)
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1992
1992
Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency.
A 16-year-old girl from Surinam presented with mental deterioration and severe paraparesis with areflexia and bilateral Babinski… (More)
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1977
1977
Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency.
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical… (More)
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