Arginase Deficiency Disease

《英文msh詞典》Arginase Deficiency Disease
[同義詞] Arginase Deficiency Disease
[主題詞] Hyperargininemia
[中文釋義] 精氨酸酶缺乏癥
[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)