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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

A True Hematologic Emergency
​BY GREGORY TAYLOR, DO, & JACKLYN M​CPARLANE, DO​A 33-year-old woman with a past medical history of sickle cell SS presented to the emergency department with chest pain, difficulty breathing, and a cough for two days. Her chest pain was diffuse, without radiation, and partially reproducible. Her cough was nonproductive, and she also reported fever and chills.The patient noted this was different from her normal back and leg pain from past sickle cell crises. She was following up with a sickle cell specialist, and was compliant with her hydroxyurea treatment.Her temperature was 102.8°F, blood pressure was 94/60 mm...
Source: The Case Files - June 26, 2018 Category: Emergency Medicine Tags: Blog Posts Source Type: research