Living with Citrullinemia type II
An inherited condition where ammonia builds up in the blood, mainly affecting the nervous system in adults.
Understanding Citrullinemia type II
It mainly affects the nervous system. Signs appear in adulthood and can be triggered by certain medications, infections, surgery, and alcohol. Some people who had a liver condition as infants (NICCD) develop adult-onset type II years or decades later. In many cases the infant liver signs resolve within a year.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Confusion
- Restlessness and memory loss
- Aggressive or other behavior changes
- Seizures
- Trouble sleeping
- Delusions or delirium
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC25A13 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
- Digestive system specialists (gastroenterologists); 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 SLC25A13 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: adult onset citrin deficiency; adult onset type 2 citrullinemia; adult-onset citrin deficiency; adult-onset citrullinemia type 2; adult-onset citrullinemia type ii; adult-onset type 2 citrullinemia
Patient organizations
- National Urea Cycle Disorders FoundationCitrullinemia type II · United States
- Save Babies Through Screening Foundation, IncCitrullinemia type II · United States
You are more than your diagnosis
Perspectives from people navigating life with Citrullinemia type II.
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