Document Detail

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
MedLine Citation:
PMID:  19592285     Owner:  NLM     Status:  MEDLINE    
Argininosuccinic aciduria (ASA) is an inborn error of ureagenesis which if untreated leads to hyperammonemia, accumulation of argininosuccinic acid and arginine depletion. The presence of high blood pressure in patients with ASA has been reported so far as transient in one newborn. We describe the first two patients, one child and one young adult, with ASA and persistent systemic hypertension. Extensive evaluation of both patients excluded secondary causes of systemic hypertension. The intriguing link between nitric oxide (NO) production and hypertension lead us to hypothesize that the deficiency of endogenously synthesized arginine caused by ASL deficiency is responsible for the increased blood pressure.
Nicola Brunetti-Pierri; Ayelet Erez; Oleg Shchelochkov; William Craigen; Brendan Lee
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2009-06-13
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  98     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2009 Sep-Oct
Date Detail:
Created Date:  2009-08-03     Completed Date:  2009-11-05     Revised Date:  2014-09-14    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  195-7     Citation Subset:  IM    
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MeSH Terms
Argininosuccinic Aciduria*
Child, Preschool
Hypertension / enzymology*
Infant, Newborn
Nitric Oxide / deficiency*
Grant Support
DK54450/DK/NIDDK NIH HHS; HD024064/HD/NICHD NIH HHS; HD041648/HD/NICHD NIH HHS; R01 DK054450/DK/NIDDK NIH HHS; R01 DK054450-10/DK/NIDDK NIH HHS; R01 GM090310/GM/NIGMS NIH HHS; RR00188/RR/NCRR NIH HHS; RR019453/RR/NCRR NIH HHS; //Howard Hughes Medical Institute
Reg. No./Substance:
31C4KY9ESH/Nitric Oxide
Comment In:
Mol Genet Metab. 2010 Apr;99(4):438   [PMID:  20036174 ]

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