HELPFUL RESOURCES
& TOOLS

Continue learning about Arginase 1 Deficiency (ARG1‑D) with these helpful resources and tools

Resources for you and your staff

DX Pathway

This guide helps make diagnosing ARG1‑D in your practice easier by explaining key manifestations and differential diagnosis information.

Diagnostics Brochure

This brochure provides an overview of Aeglea’s THINK ARGININETM Diagnostic Program and the benefits it provides to you and your patients.

Download: In-depth guidelines for the diagnosis and manaagement of urea cycle disorders

Review of Diagnosing and Managing Urea Cycle Disorders*

An in-depth review of the latest guidelines for the diagnosis and management of urea cycle disorders.

Download: A paper for improved screening for hyperargininemia due to Arginase 1 Deficiency

Better Case Detection: Newborn Screening Arginine Algorithms

ARG1‑D is not always detected during newborn screening; this paper explores improved screening effectiveness for more rapid case detection for hyperargininemia due to ARG1‑D.

History and Overview of ARG1‑D

Steven Cederbaum, MD, UCLA Medical Center, provides clinical background on ARG1‑D and discusses the importance of early diagnosis.

Functional Movement Assessments

Nathan Foreman, of RehabMetrics, discusses the importance of capturing neuromotor function measures that can be performed in the clinic.

Resources for your patients

Download: Patient Brochure for Arginase 1 Deficiency

About ARG1‑D Brochure

Give your patients the facts about ARG1‑D, its symptoms, and information about management options.

ARG1‑D Community Support

Encourage your patients to share their experiences living with or caring for someone with ARG1‑D with the Aeglea BioTherapeutics ARG1‑D Community at [email protected]. Together, we can make a change.

Behind the Mystery: A Journey in ARG1‑D Diagnosis Video

A clinical geneticist discusses the symptoms of ARG1‑D, and a mother and her son share their journey from diagnosis to symptom management.

Other valuable resources

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

A plasma amino acid panel and genetic test
can help diagnose ARG1‑D1,2

Elevated plasma arginine is the hallmark of ARG1‑D.3 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.

*Häberle J, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42:1192-1230.

Therrell BL, et al. Mol Genet Metab. 2017;121:308-313.

References:
1. Sun A, et al. Arginase deficiency. In: Adam MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020. 2. Ah Mew N, et al. Urea Cycle Disorders Overview. 2003. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1217/. Accessed September 14, 2021. 3. 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.