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Hyperargininemia

"Hyperargininemia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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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)


expand / collapse publications
This graph shows the total number of publications written about "Hyperargininemia" by people in this website by year, and whether "Hyperargininemia" was a major or minor topic of these publications.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 2011 and 2013
To see the data from this visualization as text, click here.