Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system. More detailed information about the symptoms, causes, and treatments of Arginase deficiency is available below.
See full list of 17 symptoms of Arginase deficiency
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Prognosis for Arginase deficiency: severity of the condition is variable and symptoms may not occur in mild cases until later in life
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Types of Arginase deficiency
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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) - (Source - Diseases Database)
Arginase deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Arginase deficiency, or a subtype of Arginase deficiency,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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