title: Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.
abstract: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis. We describe four patients with neonatal-onset OTC deficiency who developed vascular thromboses. One patient had arterial thrombosis; the rest developed venous thromboses. Multiple pro-thrombotic risk factors were identified. Low plasma arginine levels were observed in all patients at the time of thrombosis. Arginine deficiency and the resultant nitric oxide insufficiency may contribute to thrombotic risk. Careful normalization of plasma arginine and citrulline levels and increased surveillance for thrombotic complications should be considered in patients with OTC deficiency.
authors.affiliation: Department of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030-2399, USA. lxvenkat@txccc.org
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Venkateswaran
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
authors.forename: Valerie
authors.initials: V
authors.lastname: McLin
authors.forename: Paula
authors.initials: P
authors.lastname: Hertel
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Shchelochkov
authors.forename: Saul
authors.initials: S
authors.lastname: Karpen
authors.forename: Donald
authors.initials: D
authors.lastname: Mahoney
authors.forename: Donald L
authors.initials: DL
authors.lastname: Yee