Hyperargininemia
76
relevant articles (0 outcomes,
2 trials/studies)
found for this Disease
Description:
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)
Also Known As:
Deficiency Disease, Arginase; Arginase Deficiency Diseases; Deficiency Diseases, Arginase; Hyperargininemias; Arginase Deficiency Disease; Argininemia
Disease Context: Research Results