title: Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
abstract: 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.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors: Nicola
authors: N
authors: Brunetti-Pierri
authors: Ayelet
authors: A
authors: Erez
authors: Oleg
authors: O
authors: Shchelochkov
authors: William
authors: W
authors: Craigen
authors: Brendan
authors: B
authors: Lee
mesh_terms: D000328:Adult; D056807:Argininosuccinic Aciduria; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006973:Hypertension / Q000201:enzymology*; D007231:Infant, Newborn; D008297:Male; D009569:Nitric Oxide / Q000172:deficiency*
chemical_list: D009569:Nitric Oxide