Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings
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چکیده
منابع مشابه
Hyperhomocysteinemia, low folate and vitamin B12 concentrations, and methylene tetrahydrofolate reductase mutation in cerebral venous thrombosis.
BACKGROUND AND PURPOSE Elevated plasma levels of homocysteine are associated with an increased risk of deep-vein thrombosis. Through a case-control study, we examined the potential association among homocysteine, folate and vitamin B12 levels, and the common C677-->T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene in patients with cerebral venous thrombosis (CVT). METHODS Fo...
متن کاملHomocysteine, folate, methylene tetrahydrofolate reductase genotype and vascular morbidity in diabetic subjects.
In the present study, the determinants of fasting plasma homocysteine in diabetic subjects were examined; whether plasma homocysteine and vascular disease are related and the influence of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene on serum and erythrocyte folate, plasma homocysteine and vascular disease. Diabetic clinic subjects (Type I, n=354; Type II, n=392...
متن کامل[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].
Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...
متن کاملPrevalence of methylene tetrahydrofolate reductase polymorphism in South Indian population
Prevalence of methylene tetrahydrofolate reductase (MTHFR) gene mutations in South Indian population was investigated from a total of 608 samples, 420 adults and 188 newborns. Detection of mutation was carried out focussing on the two most common mutations of the MTHFR gene (C677T and A1298C) using PCRbased RFLP method. T-allele frequency was almost similar between the newborns and adults (0.09...
متن کاملRetinal vein occlusion, homocysteine, and methylene tetrahydrofolate reductase genotype.
PURPOSE The aim of this case-control study was to investigate the relationship between homocysteine (tHcy), 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T genotype, folate and vitamin B12 status, and retinal vein occlusion (RVO). METHODS Subjects with RVO (n = 106) were recruited from outpatient and inpatient sources. Controls (n = 98) were selected to achieve a similar age and sex d...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2007
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.2005.tb01040.x