Global InformationArgininemia information
| Argininemia | |
|---|---|
| Other names | Arginase deficiency[1] |
 | |
| Arginine | |
| Specialty | Neurology, medical genetics, endocrinology  |
| Symptoms | Lethargy, Dehydration[2][3] |
| Causes | Mutations in the ARG1 gene[4][5] |
| Diagnostic method | Urinary orotic acid concentration[2] |
| Treatment | Limited protein intake, sodium benzoate[3] |
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.[2][6]
- ^ Online Mendelian Inheritance in Man (OMIM): 207800
- ^ a b c Wong, Derek; Cederbaum, Stephen; Crombez, Eric A. (1 January 1993). "Arginase Deficiency". GeneReviews. PMID 20301338. Retrieved 20 November 2016.update 2014
- ^ a b Cite error: The named reference
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