Crigler-Najjar syndrome

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Liver anatomy

Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)

• A family history of Crigler-Najjar syndrome
• Yellow skin (jaundice) and yellow color of the whites of the eyes (icterus), which begin on the 2nd or 3rd day of life and progressively worsens
• Jaundice that persists beyond 2 weeks without an obvious cause
• Confusion and changes in thinking (resulting from brain toxicity of bilirubin)

Tests used to evaluate the liver function include:

• Unconjugated (unbound) bilirubin in blood (would be highly elevated)
• Total bilirubin level (would be high)
• Conjugated (bound) bilirubin (would be low to absent)
• Liver biopsy , enzyme assay for low or absent Glucuronyl transferase activity
• A family history of Crigler-Najjar syndrome

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.