About The Medical Condition Arginase Deficiency Diseases
Find the definition of the medical term Arginase Deficiency Diseases. Arginase Deficiency Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Arginase Deficiency Diseases
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What's The Definition Of The Medical Condition Arginase Deficiency Diseases?
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)
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