THE MAIN NEUROLOGICAL DYSFUNCTIONS IN HYPERARGININEMIA – LITERATURE REVIEW

Abstract

Objectives: To demonstrate what are the main neurological dysfunction within the hyperargininemia with other aspects of the disease (such as genetics, diagnosis and treatment) in order to provide knowledge and / or update on the issue. Methods: We conducted a literature search on reliable databases (PubMed, Scielo and UptoDate) between the years 1960-2016. The selection considered the most relevant articles unsystematically, including 49 papers and 1 book for this narrative literature review. Results: Each of the selected materials was studied aiming at the formation of a cohesive and clear article. Thus, the main topics were sequenced in: genetics, diagnosis, clinical, neurological disorders and treatment. Conclusions: hyperargininemia is a rare and underdiagnosed disease, but it is benign due to severe hyperammonemia is unusual. The neurological condition often comes with spasticity, ataxia, hyperreflexia, incoordination, paresis, bilateral Babinsky, tremor and seizures (the initial suspicion has retraction of the Achilles tendon and spasticity). The therapy focus to reduce plasma levels of arginine and maintain a normal ammonia plasmatic concentration.