The Main Neurological Dysfunctions in Hyperargininemia-Literature Review

Objectives: To demonstrate what are the main neurological dysfunctions within the hyperargininemia and other aspects of the disease in order to provide knowledgement and an update on the issue. Methods: We conducted a literature search on reliable databases (PubMed/MEDLINE, Scielo/LILACS and UptoDate) from 1960 to 2018. The selection considered the most relevant articles, including 49 papers and 1 book for this narrative literature review. Results: Each of the selected materials was studied aiming to the formation of a cohesive and clear article. The main topics were sequenced in: clinical manifestations, diagnosis, genetics, and treatment. Conclusions: Hyperargininemia is a rare and underdiagnosed disease, but it is benign due to unusual severe hyperammonemia. The main clinical signs are neurological, such as spasticity, ataxia, hyperreflexia, incoordination, paresis, bilateral Babinski sign, tremor and seizures. The initial suspicion occurs with retraction of the Achilles tendon and spasticity. The therapy focus into reducing plasma levels of arginine and maintain a normal ammonia plasmatic concentration.