A delayed diagnosis of Arginase 1 Deficiency can make it difficult to move forward

Arginase 1 Deficiency (ARG1‑D): A progressive, debilitating, inherited metabolic disease1-3

ARG1‑D, associated with high levels of plasma arginine, often involves a delayed diagnosis and progressively debilitating manifestations4-6

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Delays in diagnosis are common, leading to disease progression and worsening clinical outcomes2,5

Prolonged exposure to excess, accumulated arginine results in neurological, developmental, and functional manifestations that eventually lead to functional disability and the impairment of daily living activities.2,6,7

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.


The potential impact of ARG1‑D

Learn about delays in diagnosis and long-term disease progression

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

If you suspect your patient may have ARG1‑D

Early diagnosis of ARG1‑D could potentially reduce the burden of the disease.1,8 Order a no-charge sponsored genetic test*

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1. Diez-Fernandez C et al. Hum Mutat. 2018;39:1029-1050. 2. Carvalho DR et al. Pediatr Neurol. 2012;46:369-374. 3. Häberle J et al. J Inherit Metab Dis. 2019;1-39. 4. De Deyn PP et al. In: De Deyn PP et al, eds. Guanidino Compounds in Biology and Medicine. London, UK: John Libbey & Company Ltd; 1997:53-69. 5. Huemer M et al. J Inherit Metab Dis. 2016;39:331-340. 6. Bakhiet M et al. Medicine (Baltimore). 2018;97:e10780. 7. Crombez EA, Cederbaum SD. Mol Genet Metab. 2005;84:243-251. 8. Edwards RL et al. J Inherit Metab Dis. 2009;32:S197-S200.