VIDEO CENTER
AND LEARNING TOOLS

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

Could it Be ARG1‑D?

It is crucial to diagnose and manage ARG1‑D without delay. Here are some ways to identify the signs.



What Is ARG1‑D?

Diagnosing ARG1‑D

The Typical Journey for a
Patient With ARG1‑D

The Impact of ARG1‑D

Prolonged exposure to uncontrolled arginine levels has been associated with disease progression,1,2 and arginine levels are difficult to control with current standard of care.3-5


The Unmet Need in ARG1‑D
Detection

Why ARG1‑D Is Easily
Misdiagnosed

The Burden of ARG1‑D

Managing ARG1‑D

It is important to test for and manage ARG1‑D as early as possible,6,7 it is also important to be aware of arginine levels, whether or not symptoms appear.6,7


Standard of Care for Patients
With ARG1‑D

The ARG1‑D Healthcare Team

More Valuable Resources for You and Your Staff

Learn about the latest diagnosis guidelines, access clinical background videos, download discussion guides, and more.


History and Overview of ARG1‑D

Functional Movement Assessments

Download: Arginase 1 Deficiency DX Pathway Guide

DX Pathway

A compact guide to help make diagnosing ARG1‑D in your practice easier by identifying key manifestations and explaining how to make a differential diagnosis.

Download: In-depth guidelines for the diagnosis and management 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.

Diagnostics Brochure

An overview of the THINK ARGININE™ Diagnostic Program and the benefits it provides to you and your patients.

Better Case Detection: Newborn Screening Arginine Algorithms

A paper that explores improved screening effectiveness for more rapid case detection of ARG1‑D, which is not always detected in newborn tests.

Resources for Your Patients


Behind the Mystery: A Journey in
ARG1‑D Diagnosis

ARG1‑D: Real Journeys

Patient Communication Guide

Providing your patient with the best possible care starts with effective communication. This guide can help.

Living with Arginase 1 Deficiency Brochure

Give your patients the facts about ARG1‑D symptoms associated with the disease, 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 ARG1‑D community at [email protected]. Together, we can make a difference.

Helpful Organizations


Rare Diseases Clinical Research Network

RareDiseasesNetwork.org

UCD Foundation

UCDFamily.org

National Urea Cycle Disorders Foundation

NUCDF.org

Global Genes

GlobalGenes.org

National Organization for Rare Diseases

RareDiseases.org

EveryLife Foundation for Rare Diseases

EveryLifeFoundation.org

Metabolic Support UK

MetabolicSupportUK.org

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.6,7 Order a no-charge sponsored genetic test*

*Eligibility requirements apply.

*Häberle J et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;1-39.

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

References:
1. Bakhiet M et al. Medicine (Baltimore). 2018;97:e10780. 2. Crombez EA, Cederbaum SD. Mol Genet Metab. 2005;84:243-251. 3. Huemer M et al. J Inherit Metab Dis. 2016;39:331-340. 4. Burrage LC et al. Hum Mol Genet. 2015;24:1-11. 5. Häberle J et al. J Inherit Metab Dis. 2019;1-39. 6. Diez-Fernandez C et al. Hum Mutat. 2018;39:1029-1050. 7. Edwards RL et al. J Inherit Metab Dis. 2009;32:S197-S200.