Living with Arginase deficiency
An inherited metabolic condition in which arginine and ammonia build up in the blood, mainly affecting movement and development.
Understanding Arginase deficiency
Ammonia is toxic at high levels, and the nervous system is especially sensitive to it. The condition usually becomes clear by about age 3, most often as stiff legs (spasticity). Other signs can include slow growth, developmental delay, seizures, tremors, and balance problems. High-protein meals, illness, or fasting can cause ammonia to rise faster. Some people have milder signs that appear later in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness, especially in the legs (spasticity)
- Delayed development
- Intellectual disability
- Seizures
- Weakness on one side of the body
- Changes in speech or behavior
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in ARG1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Urea Cycle Disorders Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the ARG1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arg1 deficiency; arg1-gene related arginase deficiency; argi deficiency; arginase 1-gene related arginase deficiency; argininemia; deficiency of arginase
Patient organizations
- National Urea Cycle Disorders FoundationArginase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Arginase deficiency.
Explore research for Arginase deficiency
Explore actively recruiting Arginase deficiency studies with HealthSpark.
Find actively recruiting studies for Arginase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Arginase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Arginase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Arginase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.