Living with Citrullinemia type I
An inherited condition where ammonia and other toxic substances build up in the blood, usually showing up soon after birth.
Understanding Citrullinemia type I
Symptoms usually begin shortly after birth, with a lot of sleepiness, poor appetite, vomiting, and irritability. As ammonia builds up, muscle weakness and more serious symptoms may develop. It is often found through newborn screening and confirmed with more medical and genetic tests.
Signs & symptoms
Symptoms vary from person to person. GARD says they include:
- Extra sleepiness
- Poor appetite
- Vomiting
- Irritability
- Muscle weakness
- Liver failure
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 ASS1 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 and other patient organizations
- 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 ASS1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: argininosuccinate synthase 1-gene related citrullinemia type i; argininosuccinate synthetase deficiency; argininosuccinic acid synthase deficiency; argininosuccinic acid synthetase deficiency; ass deficiency; ass1-gene related citrullinemia type i
Patient organizations
- National Urea Cycle Disorders FoundationCitrullinemia type I · United States
- Save Babies Through Screening Foundation, IncCitrullinemia type I · United States
You are more than your diagnosis
Perspectives from people navigating life with Citrullinemia type I.
Explore research for Citrullinemia type I
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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