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Dictionary » Hyperargininemia


Introduction: Hyperargininemia

Description of Hyperargininemia

Hyperargininemia (medical condition): A very rare urea cycle disorder caused by a deficiency of...more »

See also:

Arginase deficiency:
  »Introduction: Arginase deficiency
  »Symptoms of Arginase deficiency

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

Hyperargininemia: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hyperargininemia:

Hyperargininemia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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 as a Disease

Hyperargininemia: Another name for Arginase deficiency (or close medical condition association).
  »Introduction: Arginase deficiency
  »Symptoms of Arginase deficiency

Hyperargininemia: Related Diseases

Hyperargininemia: Hyperargininemia is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Hyperargininemia (Arginase deficiency)

Some of the symptoms of Hyperargininemia incude:

Hyperargininemia: Related Disease Topics

These medical disease topics may be related to Hyperargininemia:

Terms associated with Hyperargininemia:

Terms Similar to Hyperargininemia:

Source - NIH

The following terms can be used for Hyperargininemia

Source: CRISP

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