Newborn patients with a profound lack of ASS enzyme activity can suffer severe neurological consequences and the disease can be fatal if untreated. A milder form of the disorder, which is characterized by partial lack of the ASS enzyme, may occur later during infancy or childhood. Citrullinemia type I has an estimated worldwide incidence of roughly 1 in 57,000 live births.
Despite disease management strategies (dietary restrictions and ammonia scavengers), mortality in Citrullinemia type I patients is approximately 15% and there is need for disease modifying therapies.