Ontology highlight
ABSTRACT:
SUBMITTER: Brunetti-Pierri N
PROVIDER: S-EPMC2746757 | biostudies-literature | 2009 Sep-Oct
REPOSITORIES: biostudies-literature
Brunetti-Pierri Nicola N Erez Ayelet A Shchelochkov Oleg O Craigen William W Lee Brendan B
Molecular genetics and metabolism 20090613 1-2
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 intriguin ...[more]