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Article

Fault in Our Genes: A Case of Pulmonary Thromboembolism in Young.

Annals of African medicine - 1 Apr 2024

Grover Tushar, Chawla Kunal, Dessai Rishikesh M, Gulati Shipra

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) enzyme is one of the key enzymes involved in the metabolism of folate. Mutations in this enzyme can lead to a procoagulant state. We present a case of a 20-year-old male with no known comorbidities, who presented with fever and hemoptysis and was diagnosed as a case of pulmonary embolism. He was found to have a homozygous mutation in the MTHFR gene that was responsible...

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Identifiers

PMID: 39028172
DOI: 10.4103/aam.aam_68_23
PMCID: PMC11210736

Genes

MTHFR

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