title: Thermolabile methyltetrahydrofolate reductase associated with unusual venous and arterial thromboses.
abstract: We report a patient with unusual venous and arterial thromboses in association with the common thermolabile methyltetrahydrofolate (MTHFR) variant. The patient responded directly to folate supplementation. To our knowledge, this is the first report describing hyperhomocysteinemia in association with this type of thrombosis.
authors.affiliation: Department of Hematology, Fremantle Hospital, Western Australia, Australia.
authors.forename: T N
authors.initials: TN
authors.lastname: Hall
authors.forename: L L
authors.initials: LL
authors.lastname: Ramakrishnan
authors.forename: M F
authors.initials: MF
authors.lastname: Leahy
mesh_terms: D000328:Adult; D005492:Folic Acid / Q000097:blood / Q000627:therapeutic use; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000188:drug therapy; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics / Q000378:metabolism*; D013927:Thrombosis / Q000175:diagnosis / Q000201:enzymology* / Q000209:etiology*; D020246:Venous Thrombosis / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)