Living with Neonatal intrahepatic cholestasis due to citrin deficiency
A liver condition in babies younger than one year, in which bile flow is blocked for a time; it is generally not severe.
Understanding Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD blocks the flow of bile (a digestive fluid made by the liver) and keeps the body from processing certain nutrients properly. This causes temporary bile flow problems in the liver and variable liver problems in children younger than one year. It is generally not severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellowing of the skin (jaundice)
- Enlarged liver
- Blocked or slowed bile flow (cholestasis)
- Poor weight gain
- Diarrhea
- Slow blood clotting
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 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
- 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 Save Babies Through Screening Foundation, Inc
- 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
It is caused by changes in the SLC25A13 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cdni; citrin deficiency, neonatal or infantile onset; neonatal intrahepatic cholestasis caused by citrin deficiency; neonatal-onset citrullinemia type 2; neonatal-onset citrullinemia type ii; niccd
Patient organizations
- Save Babies Through Screening Foundation, IncNeonatal intrahepatic cholestasis due to citrin deficiency · United States
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