Document Detail

Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.
MedLine Citation:
PMID:  19343772     Owner:  NLM     Status:  MEDLINE    
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.
Lakshmi Venkateswaran; Fernando Scaglia; Valerie McLin; Paula Hertel; Oleg A Shchelochkov; Saul Karpen; Donald Mahoney; Donald L Yee
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  53     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-05-14     Completed Date:  2009-06-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  100-2     Citation Subset:  IM    
Copyright Information:
Copyright 2009 Wiley-Liss, Inc.
Department of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030-2399, USA.
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MeSH Terms
Anticoagulants / therapeutic use*
Compartment Syndromes / drug therapy,  etiology
Enoxaparin / therapeutic use
Infant, Newborn
Ornithine Carbamoyltransferase Deficiency Disease / complications*,  diagnosis
Retrospective Studies
Risk Factors
Sinus Thrombosis, Intracranial / drug therapy,  etiology
Thrombosis / diagnosis,  drug therapy*,  etiology*
Venous Thrombosis / diagnosis,  etiology
Reg. No./Substance:
0/Anticoagulants; 0/Enoxaparin

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