ArticleCureus2025
Unique Presentation of Methylenetetrahydrofolate Reductase Mutation With Recurrent Hypercoagulopathy.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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0 citing papers in PubMed.
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylenetetrahydrofolate reductase (MTHFR) disease is a disorder in which reduced activity of the MTHFR enzyme disrupts folate and homocysteine metabolism, causing elevated homocysteine levels. Patients with MTHFR mutation suffer many serious lifelong complications. Our case presents a 37-year-old male who was diagnosed with a heterozygous subtype of MTHFR. He suffered multiple life-threatening blood clotting episodes despite being on adequate anticoagulants. His management was challenged by the complexity of his disease progression, as well as limited literature and clinical guidelines on the management of this condition. This unique case report adds to the understanding of clinical manifestations and acute management strategies for patients with heterozygous MTHFR mutations who suffer excessive clotting as a complication.
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Registered trials
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