Disease Information for Methyltetrahydofolate reductase defic

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Thrombosis/DVT/Deaths
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Abnormal Lab Findings - Increased
Folic acid/Folate (Lab)
Homocysteine serum (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Arteriosclerosis
Arteriosclerotic heart disease
Congenital anomalies
Folate deficiency
Homocystinuria/homocystinemia
Hypercoagulability/Thrombophilia
Megaloblastic anemia/disease
Spina bifida
Spina bifida occulta
Thromboembolic disease
Thrombophlebitis Arm/Deep Vein
Thrombophlebitis, deep vein
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 1p36.3/C677T thermolabile
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Hereditary hypercoagulation/thrombosis disorders (ex)
Synonyms
Synonym
5 6 7 8 Tetrahydrofolate NADP+ oxidoreductase, Acid Reductase Folic, Dehydrogenase Dihydrofolate, Dehydrogenase Tetrahydrofolate, DHFR, Dihydrofolate Dehydrogenase, Dihydrofolate reductase, Dihydrofolate reductase (substance), EC 1 5 1 3, Folic Acid Reductase, Reductase Dihydrofolate, Reductase Folic Acid, Tetrahydrofolate dehydrogenase, Synonym/MTHFR deficiency/mutation
Treatment
Drug Therapy - Indication
RX/Folic/Folinic acid (Leukovorin)
Definition
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External Links Related to Methyltetrahydofolate reductase defic
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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