Infantile type of homocystinuria with N5,10-methylenetetrahydrofolate reductase defect.
نویسندگان
چکیده
منابع مشابه
Betaine 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...
متن کاملImpact of Methylenetetrahydrofolate Reductase C677T Polymorphism on the Risk of Gastric Cancer and Its Interaction with Helicobacter pylori Infection
Background: Attempts for early detection of gastric cancer have recently focused on host's genetic susceptibility factors and gene-environment interactions. We have, herein, studied the association of MTHFR C677T single nucleotide polymorphism (SNP) and its interaction with Helicobacter pylori infection, smoking, age and gender on the risk of gastric cancer among an Iranian population. Methods:...
متن کاملA genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects.
It is now well-established that folic acid, taken peri-conceptionally, can reduce the risk of neural tube defects (NTDs). Recent work has demonstrated that an abnormality of homocysteine metabolism is a critical factor. The gene for 5,10 methylenetetrahydrofolate reductase, an enzyme important in homocysteine metabolism, was studied in relation to NTDs. To determine the frequency of the allele ...
متن کاملPolymorphism of the methylenetetrahydrofolate reductase gene association with homocysteine and ischemic stroke in type 2 diabetes.
BACKGROUND Ischemic stroke is a frequent heterogeneous multifactorial disease. A number of genetic mutations and environmental factors have been implicated. A polymorphism in the gene for methylenetetrahydrofolate reductase (MTHFR) has been reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases. AIM A cross-sectional study was performed to determine t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1977
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.121.185