Methylenetetrahydrofolate Reductase deficiency and anesthesia: importance of a detailed preoperative evaluation
نویسندگان
چکیده
منابع مشابه
Evaluation of the Association between the C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene and Recurrent Spontaneous Abortion
Introduction: One factor known to cause thrombophilia in women with unexplained recurrent spontaneous abortion (RSA) is C677T polymorphism of methylenetetrahydrofolate reductase gene. This study aimed to determine the association between RSA and MTHFR C677T polymorphism in Iranian patients. Methods: In this case-control study, 30 patients with previous history of two or more consecutive unexpla...
متن کاملBetaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.
متن کاملLong term treatment with betaine in methylenetetrahydrofolate reductase deficiency.
A girl aged 7.5 years with deficiency of 5,10-methylenetetrahydrofolate reductase was treated from early infancy with betaine, 3-6 g daily. She has slight microcephaly, moderate developmental delay, and impaired vision but there have been no obvious signs of folate deficiency. From 4 years of age, she developed an unexplained extreme increase in appetite and weight. Recent magnetic resonance im...
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 کاملMethylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme key regulator in folate metabolism. Deficiencies in MTHFR result in increased levels of homocysteine, which leads to reduced levels of S-adenosylmethionine (SAM). In the brain, SAM donates methyl groups to catechol-O-methyltransferase (COMT), which is involved in neurotransmitter analysis. Using the MTHFR-deficient mouse model the purpose...
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ژورنال
عنوان ژورنال: Brazilian Journal of Anesthesiology (English Edition)
سال: 2019
ISSN: 0104-0014
DOI: 10.1016/j.bjane.2019.05.001