Disease
Argininemia1, 2, 3
Gene
ARG1
| Inheritance | AR |
|---|---|
| Current Treatments | protein restriction, liver transplant, sodium benzoate, ravicti |
| Evidence for Treatment | expert opinion |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | red blood cell arginase level4 |
| Disease Frequency (per 100,000) | 0.2155 |
| Genes Included in Disease Frequency | ARG1 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=arg1&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/books/NBK482365/#:~:text=Arginase%20deficiency%20(argininemia)%20is%20an,developmental%20delay%20and%20cognitive%20problems.
- 2 https://www.ncbi.nlm.nih.gov/books/NBK1159/
- 3 https://pubmed.ncbi.nlm.nih.gov/36049366/
- 4 https://www.ncbi.nlm.nih.gov/books/NBK1159/#arg1.Diagnosis
- 5 https://ghr.nlm.nih.gov/condition/arginase-deficiency#statistics
Last Updated: March 5, 2026