A delayed diagnosis of Arginase 1 Deficiency (ARG1‑D) can make it difficult to move forward1-2

ARG1‑D: A progressive, debilitating, inherited
metabolic disease
3-5

Arginase 1 Deficiency (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

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

Infancy

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

Toddlerhood

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

Childhood

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

Adolescence

Adulthood progression of Arginase 1 Deficiency.

Adulthood

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.*

*For plasma amino acid panel and genetic test patient eligibility criteria, please visit Order Testing.

References:
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 March 6, 2021.