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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<b>Hyperargininemia</b>; Arginase

Hyperargininemia; Arginase
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N-Acetylglutamate Synthetase

N-Acetylglutamate Synthetase
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Arginase deficiency chart

Arginase deficiency chart
www.newbornscreening.info

gt201299f10.jpg

gt201299f10.jpg
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(<b>Hyperargininemia</b>)

(Hyperargininemia)
becomerich.lab.u-ryukyu.ac.jp

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