Living with Argininosuccinate lyase deficiency
An inherited condition in which ammonia builds up in the blood, usually showing up in the first days of life.
Understanding Argininosuccinate lyase deficiency
Ammonia is toxic at high levels, and the nervous system is especially sensitive to it. It usually becomes clear in the first few days of life, with low energy, poor feeding, and unstable breathing or body temperature. Some babies have seizures. Later problems can include developmental delay, liver damage, high blood pressure, and brittle hair. Some people have a mild form.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low energy and sleepiness (lethargy)
- Vomiting
- Seizures
- Intellectual disability and developmental delay
- Enlarged liver
- Brittle hair (monilethrix)
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ASL 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
- Brain and nervous system specialists (neurologists); 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 ASL gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: argininosuccinase deficiency; argininosuccinatelyase deficiency; argininosuccinic acid lyase deficiency; argininosuccinic acidemia; argininosuccinic aciduria; arginosuccinase deficiency
Patient organizations
- National Urea Cycle Disorders FoundationArgininosuccinate lyase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Argininosuccinate lyase deficiency.
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