argininemia
Sign in to saveAlso known as Arg1 Deficiency, deficiency of canavanase, Arginase deficiency (disorder), hyperargininemia, Arginase deficiency
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
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- NCI Thesaurus ID
- C84568
- exact match
- www.orpha.net/ORDO/Orphanet_90
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Article
7 sectionsContents
- Signs and symptoms
- Genetics
- Diagnosis
- Treatment
- References
- Further reading
- External links
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
==Signs and symptoms== The presentation of argininemia, in those that are affected, is consistent with the following: