Learn About Crigler-Najjar Syndrome

What is the definition of Crigler-Najjar Syndrome?

Crigler-Najjar syndrome is a very rare inherited disorder in which bilirubin cannot be broken down. Bilirubin is a substance made by the liver.

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What are the alternative names for Crigler-Najjar Syndrome?

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

What are the causes of Crigler-Najjar Syndrome?

An enzyme converts bilirubin into a form that can easily be removed from the body. Crigler-Najjar syndrome occurs when this enzyme does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to:

  • Jaundice (yellow discoloration of skin and eyes)
  • Damage to the brain, muscles, and nerves

Type I Crigler-Najjar is the form of the disease that starts early in life. Type II Crigler-Najjar syndrome may start later in life.

The syndrome runs in families (inherited). A child must receive a copy of the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult, but DO NOT have symptoms.

What are the symptoms of Crigler-Najjar Syndrome?

Symptoms may include:

  • 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
  • Lethargy
  • Poor feeding
  • Vomiting
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What are the current treatments for Crigler-Najjar Syndrome?

Light treatment (phototherapy) is needed throughout a person's life. In infants, this is done using bilirubin lights (bili or 'blue' lights). Phototherapy does not work as well after age 4, because thickened skin blocks the light.

A liver transplant can be done in some people with type I disease.

Blood transfusions may help control the amount of bilirubin in blood. Calcium compounds are sometimes used to remove bilirubin in the gut.

The drug phenobarbitol is sometimes used to treat type II Crigler-Najjar syndrome.

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What is the outlook (prognosis) for Crigler-Najjar Syndrome?

Milder forms of the disease (type II) do not cause liver damage or changes in thinking during childhood. People who are affected with a mild form still have jaundice, but they have fewer symptoms and less organ damage.

Infants with the severe form of the disease (type I) may continue to have jaundice into adulthood, and may need daily treatment. If not treated, this severe form of the disease will lead to death in childhood.

People with this condition who reach adulthood will develop brain damage due to jaundice (kernicterus), even with regular treatment. The life expectancy for type I disease is 30 years.

What are the possible complications of Crigler-Najjar Syndrome?

Possible complications include:

  • A form of brain damage caused by jaundice (kernicterus)
  • Chronic yellow skin/eyes
When should I contact a medical professional for Crigler-Najjar Syndrome?

Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar.

Call your health care provider if you or your newborn infant has jaundice that does not go away.

How do I prevent Crigler-Najjar Syndrome?

Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have children. Blood tests can identify people who carry the genetic variation.

Liver anatomy
What are the latest Crigler-Najjar Syndrome Clinical Trials?
HepaStem Long-Term Safety Registry - Registry for Patients Who Have Been Administered HepaStem

Summary: All patients having received at least one infusion of the Investigational Medicinal Product (IMP) HepaStem HHALPC during a previous interventional clinical study conducted by Promethera Biosciences

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A Phase I/II, Open Label, Escalating Dose Study to Evaluate Safety and Efficacy of an Intravenous Injection of GNT0003 (AAV Vector Expressing the UGT1A1 Transgene) in Patients With Severe Crigler-Najjar Syndrome Requiring Phototherapy

Summary: This is a Phase 1/2, multinational, open-label, escalating-dose study to evaluate the safety and efficacy of an intravenous infusion of GNT0003 in patients with Crigler-Najjar aged ≥10 years and requiring phototherapy. Patients will received a single administration of GNT0003 and will be followed for safety and efficacy of approximately 60 months (5 years): a follow-up of approximately 12 months (...

What are the Latest Advances for Crigler-Najjar Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.

Who are the sources who wrote this article ?

Published Date: July 21, 2020
Published By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Kaplan M, Wong RJ, Burgis JC, Sibley E, Stevenson DK. Neonatal jaundice and liver diseases. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 91.

Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 21.

Peters AL, Balistreri WF. Metabolic diseases of the liver. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 384.