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Hyperargininemia MeSH Descriptor Data 2024


MeSH Heading
Hyperargininemia
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
Unique ID
D020162
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020162
Scope Note
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)
Entry Term(s)
ARG1 Deficiency
Arginase Deficiency
Arginase Deficiency Disease
Argininemia
Deficiency Disease, Arginase
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1966-1999)
See Also
Arginase
Public MeSH Note
2000
History Note
2000
Date Established
2000/01/01
Date of Entry
1999/11/03
Revision Date
2013/07/08
Hyperargininemia Preferred
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