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)
Year introduced: 2000
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Tree 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
MeSH Unique ID: D020162
Entry Terms:
- 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
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