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)

Descriptor ID	D020162
MeSH Number(s)	C10.228.140.163.100.937.500 C16.320.565.100.940.500 C16.320.565.189.937.500 C18.452.132.100.937.437 C18.452.648.100.940.437 C18.452.648.189.937.437
Concept/Terms	Hyperargininemia Hyperargininemia Hyperargininemias Deficiency Disease, Arginase Arginase Deficiency Disease Arginase Deficiency Diseases Deficiency Diseases, Arginase Argininemia ARG1 Deficiency ARG1 Deficiencies Deficiencies, ARG1 Deficiency, ARG1 Arginase Deficiency Arginase Deficiencies Deficiencies, Arginase Deficiency, Arginase

Below are MeSH descriptors whose meaning is more general than "Hyperargininemia".

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Below are MeSH descriptors whose meaning is more specific than "Hyperargininemia".