title: Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis.
abstract: Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Newborn-related factors, including genetic prothrombotic risk factors, may affect the occurrence of neonatal thrombosis. In this report, a case of intrauterine iliofemoral arterial thrombosis associated with mild hyperhomocysteinemia caused by methylenetetrahydrofolate reductase 677C-T gene mutation is presented. We suggest that methylenetetrahydrofolate reductase gene mutation might be investigated in neonates and their families presenting with thromboembolic disease.
authors.affiliation: Baskent University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey. alioglub@gmail.com
authors.forename: Bulent
authors.initials: B
authors.lastname: Alioglu
authors.forename: Emel
authors.initials: E
authors.lastname: Ozyurek
authors.forename: Aylin
authors.initials: A
authors.lastname: Tarcan
authors.forename: F Belgin
authors.initials: FB
authors.lastname: Atac
authors.forename: Berkan
authors.initials: B
authors.lastname: Gurakan
authors.forename: Namik
authors.initials: N
authors.lastname: Ozbek
mesh_terms: D000800:Angioplasty, Balloon; D005263:Femoral Artery; D005343:Fibrinolytic Agents / Q000008:administration & dosage; D006493:Heparin / Q000008:administration & dosage; D006801:Humans; D007083:Iliac Artery; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013300:Streptokinase / Q000008:administration & dosage; D013927:Thrombosis / Q000201:enzymology* / Q000235:genetics / Q000628:therapy
chemical_list: D005343:Fibrinolytic Agents; D006493:Heparin; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013300:Streptokinase