Ontology highlight
ABSTRACT:
SUBMITTER: Nagamani SC
PROVIDER: S-EPMC3444682 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Nagamani Sandesh C S SC Lee Brendan B Erez Ayelet A
Molecular genetics and metabolism 20120720 1-2
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. In spite of a lower risk for recurrent hyperammonemic episodes as compared to the proximal disorders of ureagenesis, subjects with ASA are at risk for long-term complications including, poor neurocognitive outcome, hepatic disease and systemic hypertension. These complications can occur in spite of current standard therapy that includes dietary modifications and arginine supplementation suggesting that the present ...[more]