UGT1A1 AR unreviewed
Crigler-Najjar syndrome type I
Bilirubin metabolism
Enzyme or protein defect
UGT1A1 (absent)
Accumulates or becomes deficient
Unconjugated bilirubin
Key features
Severe neonatal jaundice, kernicterus, death without transplant
Management
Phototherapy, plasmapheresis, liver transplant (type II responds to phenobarbital)
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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