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DeCS
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Descriptor English:
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Hyperargininemia
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Descriptor Spanish:
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Hiperargininemia
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Descriptor Portuguese:
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Hiperargininemia
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Synonyms English:
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ARG1 Deficiencies
ARG1 Deficiency
Arginase Deficiencies
Arginase Deficiency
Arginase Deficiency Disease
Arginase Deficiency Diseases
Argininemia
Deficiencies, ARG1
Deficiencies, Arginase
Deficiency Disease, Arginase
Deficiency Diseases, Arginase
Deficiency, ARG1
Deficiency, Arginase
Hyperargininemias
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Tree Number:
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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
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Definition English:
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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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See Related English:
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Arginase
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34231
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Unique Identifier:
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D020162
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Occurrence in VHL:
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Similar:
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DeCS
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