title: Optimizing therapy for argininosuccinic aciduria.
abstract: 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 presently available therapy is suboptimal. In this article, we discuss the natural history of ASA and the recent mechanistic insights from animal studies that have shown the requirement of argininosuccinate lyase, the enzyme deficient in ASA, for systemic nitric oxide production. These findings may have therapeutic implications and may help optimize therapy in ASA.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors: Sandesh C S
authors: SC
authors: Nagamani
authors: Brendan
authors: B
authors: Lee
authors: Ayelet
authors: A
authors: Erez
mesh_terms: D001120:Arginine / Q000627:therapeutic use; D001123:Argininosuccinate Lyase / Q000235:genetics / Q000378:metabolism; D056807:Argininosuccinic Aciduria / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D005609:Free Radicals / Q000378:metabolism; D056726:Genetic Association Studies; D006801:Humans; D010641:Phenotype
chemical_list: D005609:Free Radicals; D001120:Arginine; D001123:Argininosuccinate Lyase