Living with Citrullinemia
An inherited condition that lets ammonia and other toxic substances build up in the blood, in two main types.
Understanding Citrullinemia
There are two types, with different symptoms and different genes. Type I (classic) usually shows in the first days of life with lethargy, poor feeding, vomiting, seizures, and loss of consciousness. A milder form can start later in childhood or adulthood, with headaches, blind spots, poor balance, and lethargy. Some people with type I gene changes never have symptoms.
Signs & symptoms
Symptoms vary by type. GARD says type I may cause:
- Lack of energy (lethargy)
- Poor feeding
- Vomiting
- Seizures
- Loss of consciousness
- Liver problems
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 citrullinemia is caused by gene changes, and the two types involve different genes. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: argininosuccinate synthase deficiency; deficiency of argininosuccinate synthase; deficiency of citrulline-aspartate ligase
Patient organizations
- National Urea Cycle Disorders FoundationCitrullinemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Citrullinemia.
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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