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.
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.
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
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
Urea Cycle Disorders Consortium
RareDiseasesNetwork.org
National Urea Cycle Disorders Foundation
Nucdf.org
National Organization for Rare Diseases
RareDiseases.org
Metabolic Support UK
MetabolicSupport.uk
UCD Foundation
UcdFamily.org
Global Genes
GlobalGenes.org
EveryLife Foundation for Rare Diseases
EveryLifeFoundation.org
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
‡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.
