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Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis

Venkateswaran, Lakshmi
Scaglia, Fernando
Hertel, Paula
Shchelochkov, Oleg A.
Karpen, Saul
Mahoney, Donald Jr
Yee, Donald L.
Published in Pediatric Blood and Cancer. 2009, vol. 53, no. 1, p. 100-102
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.
Keywords Anticoagulants/*therapeutic useCompartment Syndromes/drug therapy/etiologyEnoxaparin/therapeutic useHumansInfantInfant, NewbornMaleOrnithine Carbamoyltransferase Deficiency Disease/*complications/diagnosisRetrospective StudiesRisk FactorsSinus Thrombosis, Intracranial/drug therapy/etiologyThrombosis/diagnosis/*drug therapy/*etiologyVenous Thrombosis/diagnosis/etiology
PMID: 19343772
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VENKATESWARAN, Lakshmi et al. Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. In: Pediatric Blood and Cancer, 2009, vol. 53, n° 1, p. 100-102. doi: 10.1002/pbc.22016

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Deposited on : 2012-04-23

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