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Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis
Author(s) -
Venkateswaran Lakshmi,
Scaglia Fernando,
McLin Valerie,
Hertel Paula,
Shchelochkov Oleg A.,
Karpen Saul,
Mahoney Donald,
Yee Donald L.
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22016
Subject(s) - medicine , ornithine transcarbamylase deficiency , thrombosis , citrulline , arginine , urea cycle , ornithine transcarbamylase , gastroenterology , thrombophilia , venous thrombosis , cardiology , endocrinology , biochemistry , amino acid , chemistry
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. Pediatr Blood Cancer 2009;53:100–102. © 2009 Wiley‐Liss, Inc.