Living with Crigler-Najjar syndrome type 1
An inherited condition in which the body cannot break down bilirubin, causing jaundice and possible damage to the brain, muscles, and nerves.
Understanding Crigler-Najjar syndrome type 1
Without this enzyme, bilirubin builds up in the body. This causes jaundice and can damage the brain, muscles, and nerves. Jaundice begins in newborns. A form of brain damage called kernicterus can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long-lasting jaundice in newborns
- Floppy muscle tone (floppy infant)
- Brain damage from bilirubin (kernicterus)
- Liver differences
- Bile duct differences
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 UGT1A1 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 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
It is caused by changes in the UGT1A1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bilirubin glucuronosyltransferase deficiency; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; crigler-najjar syndrome type i; crigler-najjar syndrome, type 1; crigler-najjar syndrome, type i
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 type 1.
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