Preferred Label : hyperargininemia;

MeSH definition : 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);

MeSH synonym : deficiency diseases, arginase; arginase deficiency disease; hyperargininemias; deficiency disease, arginase; arginase deficiency diseases; argininemia; Deficiencies, Arginase; Deficiency, Arginase; ARG1 Deficiency; ARG1 Deficiencies; Deficiencies, ARG1; Deficiency, ARG1; Arginase Deficiency; Arginase Deficiencies;

Wikipedia link : https://en.wikipedia.org/wiki/Argininemia;

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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)

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=99726
2011
France
scientific and technical information
hyperargininemia

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=99727
2011
France
scientific and technical information
hyperargininemia

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=90
2002
France
French
arginase
hyperargininemia
hyperargininemia
scientific and technical information

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24/07/2025


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