Living with Citrin deficiency
A rare inherited condition affecting how the body clears ammonia, with liver problems in newborns or brain-related symptoms in adults.
Understanding Citrin deficiency
The adult-onset form, citrullinemia type II, causes recurring episodes of high ammonia (hyperammonemia) with brain and behavior symptoms. The newborn form, called neonatal intrahepatic cholestasis due to citrin deficiency, causes temporary bile flow problems and varying liver problems. GARD lists onset at any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Repeated episodes of high ammonia
- Brain and behavior symptoms in adults
- Temporary slowed bile flow in newborns
- Varying liver problems in newborns
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 lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: slc25a13 related citrin deficiency; solute carrier family 25 member 13 related citrin deficiency
Patient organizations
- National Urea Cycle Disorders FoundationCitrin deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Citrin deficiency.
Explore research for Citrin deficiency
Explore actively recruiting Citrin deficiency studies with HealthSpark.
Find actively recruiting studies for Citrin 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 Citrin 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 Citrin 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 Citrin 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.