• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Recurrent stroke in a patient with vitamin B12 deficiency and MTHFR mutation
We report an unusual case of recurrent stroke in a patient with vitamin B12 deficiency who was also homozygous for the methylene tetrahydrofolate reductase (MTHFR) gene mutation. The patient was a 35-year-old male vegetarian with no known medical history who initially presented with global aphasia, slurred speech, right facial weakness, and right-sided hemiplegia and was found to have a stroke (NIH Stroke Scale score of 25). At that time a CT scan of the head ruled out intracranial hemorrhage and a CT angiogram of the head and neck was done. The patient was found to have occlusion of the M1 segment of the left middle cereb...
Source: Neurology Clinical Practice - February 12, 2017 Category: Neurology Authors: Zacharia, G., Shani, D., Ortiz, R. A. Tags: Stroke in young adults, Stroke prevention, Hematologic, All Cerebrovascular disease/Stroke Case Source Type: research