Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
نویسندگان
چکیده
منابع مشابه
Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’s Thrombasthenia
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...
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 کاملSurvival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
IMPORTANCE The impact of betaine treatment on outcome in patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. OBJECTIVE To investigate the effect of betaine treatment on development and survival in patients with severe MTHFR deficiency. DATA SOURCES MEDLINE, EMBASE, and Cochrane databases between January 1960 and December 2012. STUDY SELECTION ...
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 کاملmethylenetetrahydrofolate reductase polymorphisms in iranian patients with glanzmann’s thrombasthenia
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: Molecular Genetics and Metabolism Reports
سال: 2020
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2020.100644