Deficiency Diseases, Arginase Medical Condition Defined & Explained

About The Medical Condition Deficiency Diseases, Arginase

Find the definition of the medical term Deficiency Diseases, Arginase. Deficiency Diseases, Arginase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Deficiency Diseases, Arginase

Deficiency Diseases, Arginase Medical Condition
What's The Definition Of The Medical Condition Deficiency Diseases, Arginase? 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)

Deficiency Diseases, Arginase Medical Condition

What's The Definition Of The Medical Condition Deficiency Diseases, Arginase?

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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