Crigler-Najjar syndrome type 2

Pathology

• deficiency in UDP-glucuronyltransferase 1

Genetics

• autosomal dominant
• associated with defects in UGT1A1 gene

Clinical manifestations

• less severe than for Crigler-Najjar syndrome type 1
• affected individuals usually survive into adulthood without neurologic damage

Laboratory

• unconjugated hyperbilirubinemia, serum unconjugated bilirubin levels in the range of 7-20 mg/dL
• UGT1A1 gene mutation

Management

• phenobarbital 60-180 mg/day causes a rapid decline in serum bilirubin, but treatment is rarely necessary except in the newborn

More general terms

• Crigler-Najjar syndrome

Database

• OMIM: https://mirror.omim.org/entry/606785
• OMIM: https://mirror.omim.org/entry/191740