ARG1 Deficiencies

ARG1 Deficiency

Arginase Deficiencies

Arginase Deficiency

Arginase Deficiency Disease

Arginase Deficiency Diseases


Deficiencies, ARG1

Deficiencies, Arginase

Deficiency Disease, Arginase

Deficiency Diseases, Arginase

Deficiency, ARG1

Deficiency, Arginase


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)

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