Crigler-Najjar Syndrome

By Steven K. Herrine, MD, Thomas Jefferson University;Jefferson Medical College

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Approach to the Patient With Liver Disease
Liver Structure and Function
Evaluation of the Patient With a Liver Disorder
The Asymptomatic Patient With Abnormal Laboratory Test Results
Acute Liver Failure
Ascites
Crigler-Najjar Syndrome
Fatty Liver
Gilbert Syndrome
Inborn Metabolic Disorders Causing Hyperbilirubinemia
Jaundice
Nonalcoholic Steatohepatitis (NASH)
Portal Hypertension
Portosystemic Encephalopathy
Spontaneous Bacterial Peritonitis (SBP)
Postoperative Liver Dysfunction
Systemic Abnormalities in Liver Disease

This rare inherited disorder is caused by deficiency of the enzyme glucuronyl transferase.

Patients with autosomal recessive type I (complete) disease have severe hyperbilirubinemia. They usually die of kernicterus by age 1 yr but may survive into adulthood. Treatment may include phototherapy and liver transplantation.

Patients with autosomal dominant type II (partial) disease (which has variable penetrance) often have less severe hyperbilirubinemia (< 20 mg/dL [< 342 μmol/L]) and usually live into adulthood without neurologic damage. Phenobarbital 1.5 to 2 mg/kg po tid, which induces the partially deficient glucuronyl transferase, may be effective.

Last full review/revision May 2016 by Steven K. Herrine, MD