Living with Crigler-Najjar syndrome
A genetic liver condition in which bilirubin builds up in the blood, causing yellow skin from birth or infancy.
Understanding Crigler-Najjar syndrome
Bilirubin is made when red blood cells break down and is normally cleared by the liver. When it builds up, it causes yellowing of the skin and eyes (jaundice) that shows at birth or in infancy. Very high levels can cause brain damage called kernicterus, which can lead to tiredness, low or high muscle tone, writhing movements, hearing problems, or intellectual disability. There are two types: type 1 is very severe, and type 2 is milder with less risk of kernicterus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellow skin and eyes (jaundice)
- Low muscle tone (hypotonia)
- Poor sucking
- Brain damage from bilirubin (kernicterus)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 rare disease patient organizations for support
- 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 genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene on this page.
Also known as: bilirubin udp glucuronyl transferase deficiency; bilirubin uridinediphosphate glucuronosyltransferase deficiency; bilirubin-ugt deficiency; crigler najjar syndrome; hereditary unconjugated hyperbilirubinemia; ugt deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Crigler-Najjar syndrome.
Explore research for Crigler-Najjar syndrome
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