201 top medical experts on Hyperargininemia across 21 countries and 14 U.S. states, including 35 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Hyperargininemia: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme arginase. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Inborn Urea Cycle Disorders (1,187).
- Clinical Trials : at least 6 including 2 Active, 1 Completed, 2 Recruiting
- Synonyms: ARG1 Deficiency, Arginase Deficiency, Arginase Deficiency Disease, Argininemia
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