Diagnosis
ARG1-D can be easily verified in routine testing
In patients with manifestations and a medical history suggestive of ARG1-D, plasma arginine levels should be measured in a routine plasma quantitative amino acid analysis1,2
If hyperargininaemia is present, the ARG1-D diagnosis can be confirmed by a genetic test*
* Due to the genetic heterogeneity of ARG1 genotypes, not all mutations causing ARG1-D have been identified.
- Sun A, et al. Arginase Deficiency. 2004 Oct 21 [updated 2020 May 28]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
- Ah Mew N, et al. Urea Cycle Disorders Overview. 2003. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1217/.