A delayed diagnosis of Arginase 1 Deficiency can make it difficult to move forward1-2

Arginase 1 Deficiency (ARG1‑D): A progressive, debilitating, inherited metabolic disease3-5

ARG1‑D is associated with the persistent elevation of plasma arginine and, when left undiagnosed, may lead to significant morbidity and early mortality.6-9

High levels of plasma arginine in childhood may progress to
cause debilitating complications in adulthood1,4,7

ARG1‑D is a rare genetic metabolic disease that requires a multidisciplinary management plan directed by a metabolic specialist.

Toddlerhood progression (2 - 4 years) of Arginase 1 Deficiency.


Infancy progression (6 - 12 months) of Arginase 1 Deficiency.


Childhood progression (5 - 10 years) of Arginase 1 Deficiency.


Adolescence progression (11 - 17 years) of Arginase 1 Deficiency.


Adulthood progression of Arginase 1 Deficiency.


Go behind the mystery of ARG1‑D

See how the debilitating manifestations of ARG1‑D gravely impact an entire family.4

Arginase 1 Deficiency (ARG1‑D) - order amino acid panel and genetic test

A plasma amino acid panel and genetic test
can help diagnose ARG1‑D8,10

Elevated plasma arginine is the hallmark of ARG1‑D.6 Order a NO-CHARGE sponsored plasma amino acid panel and genetic test to confirm a diagnosis.*

*Eligibility requirements apply.

1. Huemer M, et al. J Inherit Metab Dis. 2016;39:331-340. 2. Bakhiet M, et al. Medicine (Baltimore). 2018;97:e10780. 3. Diez-Fernandez C, et al. Hum Mutat. 2018;39:1029-1050. 4. Carvalho DR, et al. Pediatr Neurol. 2012;46:369-374. 5. Häberle J, et al. Orphanet J Rare Dis. 2012;7:32. 6. De Deyn PP, et al. Hyperargininemia: a treatable inborn error of metabolism. In: Guanidino Compounds in Biology and Medicine. London, UK: John Libbey Company Ltd; 1997:53-69. 7. Crombez EA, Cederbaum SD. Mol Genet Metab. 2005;84:243-251. 8. Sun A, et al. Arginase deficiency. In: Adam MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020. 9. Diaz GA, et al. Poster presented at: 13th European Paediatric Neurology Society (EPNS) Congress; September 17-21, 2019; Athens, Greece. Poster P06-34. 10. Ah Mew N, et al. Urea Cycle Disorders Overview. 2003. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1217/. Accessed September 14, 2021.