Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Julien BaruteauElisabeth JamesonAndrew A MorrisAnupam ChakrapaniSaikat SantraSuresh VijayHuriye KocadagClare E BeesleyStephanie GrunewaldElaine MurphyMaureen ClearyHelen MundyLara AbulhoulAlexander BroomfieldRobin LachmannYusof RahmanPeter H RobinsonLesley MacPhersonKatharine FosterW Kling ChongDeborah A RidoutKirsten McKay BounfordSimon N WaddingtonPhilippa B MillsPaul GissenJames E DavisonPublished in: Journal of inherited metabolic disease (2017)
Our study further defines the natural history of argininosuccinic aciduria and genotype-phenotype correlations. The neurological phenotype does not correlate with the severity of hyperammonaemia and plasma argininosuccinic acid levels. The disturbance in nitric oxide synthesis may be a contributor to the neurological disease. Clinical trials providing nitric oxide to the brain merit consideration.