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Crigler-Najjar syndrome - Symptom

Alternative Names

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

Symptoms:

Confusion and changes in thinking
Yellow skin (jaundice) and yellow in the whites of the eyes (icterus), which begin a few days after birth and get worse over time

Signs and tests:

Tests used to evaluate liver function include:

Conjugated (bound) bilirubin
Liver biopsy, enzyme assay
Total bilirubin level
Unconjugated (unbound) bilirubin in blood

Liver anatomy

Reviewed last on: 8/7/2008
Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Carey RG, Balistreri WF. Metabolic Diseases of the Liver. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 354.

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