《英文msh詞典》Deficiency Diseases,Arginase
[入口詞] Deficiency Diseases,Arginase
[主題詞] Hyperargininemia
[英文釋義] A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme type I 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)