Disease Information for HyperArgininemia

A rare autosomal recessive disorder of the urea cycle; It is caused by a deficiency of the hepatic enzyme type I 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)---------------------------.

Arginase Deficiency; ARG Deficiency; Argininemia

Hyperargininemia ; Discussion: Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase; Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle; The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid; Affected infants may exhibit mental retardation, seizures, and spasticity; Arginase deficiency is inherited as an autosomal recessive trait; The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine; Nitrogen is a waste product of protein metabolism; Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood--------- [NORD 2005]-------------

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