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Crigler-Najjar Syndrome

By Steven K. Herrine, MD, Professor of Medicine, Division of Gastroenterology and Hepatology, and Vice Dean for Academic Affairs, Sidney Kimmel Medical College at Thomas Jefferson University

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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.

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