{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:20:42Z","timestamp":1787764842404,"version":"build-2784847793"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>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 for his disease state. He was started on unfractionated heparin infusion and underwent catheter-directed thrombolysis. He showed marked improvement in his condition and was discharged on oral anticoagulants with an advice to follow-up.<\/jats:p>","DOI":"10.4103\/aam.aam_68_23","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T08:50:44Z","timestamp":1698137444000},"page":"234-236","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Fault in Our Genes: A Case of Pulmonary Thromboembolism in Young"],"prefix":"10.4103","volume":"23","author":[{"given":"Tushar","family":"Grover","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunal","family":"Chawla","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rishikesh M.","family":"Dessai","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shipra","family":"Gulati","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,10,24]]},"reference":[{"key":"R3-20260505","first-page":"414","article-title":"Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase","volume":"43","author":"Kang","year":"1988","journal-title":"Am J Hum Genet"},{"key":"R4-20260505","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/ng0595-111","article-title":"A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase","volume":"10","author":"Frosst","year":"1995","journal-title":"Nat Genet"},{"key":"R5-20260505","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/01.CIR.93.1.7","article-title":"Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations","volume":"93","author":"Jacques","year":"1996","journal-title":"Circulation"},{"key":"R6-20260505","first-page":"1268","article-title":"Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR","volume":"59","author":"Goyette","year":"1996","journal-title":"Am J Hum Genet"},{"key":"R7-20260505","doi-asserted-by":"crossref","first-page":"e6","DOI":"10.1161\/CIRCULATIONAHA.114.013311","article-title":"Homocysteine and MTHFR mutations","volume":"132","author":"Moll","year":"2015","journal-title":"Circulation"}],"container-title":["Annals of African Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_68_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:47:38Z","timestamp":1787762858000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_68_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,24]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/aam.aam_68_23","relation":{},"ISSN":["1596-3519","0975-5764"],"issn-type":[{"value":"1596-3519","type":"print"},{"value":"0975-5764","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,24]]},"assertion":[{"value":"2023-05-09","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-13","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}