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Hyperargininemia (medical condition): A very rare urea cycle disorder caused by a deficiency of the enzyme ...more »
Hyperargininemia: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme 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: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Hyperargininemia:
Hyperargininemia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Hyperargininemia, or a subtype of Hyperargininemia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Hyperargininemia: Hyperargininemia is listed as a type of (or associated with) the following medical conditions in our database:
Some of the symptoms of Hyperargininemia incude:
These medical disease topics may be related to Hyperargininemia:
Source - NIH
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