Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
نویسندگان
چکیده
منابع مشابه
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.
BACKGROUND Assay of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in homocysteine metabolism, is important for the study of severe and mild deficiency states. Because the conventional assay measures in the reverse direction, lacks sensitivity, and uses nonphysiologic substrates, the exact measurement and characterization of residual activity in easily accessible tissues have been di...
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The effects of genetic variations of methylenetetrahydrofolate reductase (MTHFR) enzyme activity have been the discussion of many research papers. It has been associated with multiple neurological sequelae, and has been implicated in other chronic diseases. Although many genetic influences on the development and/or progression of idiopathic scoliosis have been reported, there has been no report...
متن کاملA founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...
متن کاملC677T and A1298C Mutations in the Methylenetetrahydrofolate Reductase Gene in Patients with Recurrent Abortion from the Iranian Azeri Turkish
Background To assess whether the C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHER) gene are associated with recurrent abortion (RA), we determined the frequencies of the T677 and C1298 mutations in patients and controls. MaterialsAndMethods Mutations were determined by a RFLP-PCR method in 53 patients and 61 matched controls. Results The frequencies of T alleles were...
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Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's t...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2015
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-015-9860-6