Crigler Najjar syndrome type 1

Synonyms

3

Overview

Crigler-Najjar syndrome, type 1: A rare congenital condition involving a total absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and severe symptoms. Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.

Symptoms

The list of signs and symptoms mentioned in various sources for Crigler-Najjar syndrome, type 1 includes the 18 symptoms listed below:

  • Severe jaundice
  • Severe central nervous system disorders
  • Recurrent fever
  • Complete lack of glucoronyl transferase
  • High blood bilirubin level
  • Liver damage
  • Confusion
  • Yellow eyes
  • Yellow skin
  • Severe jaundice
  • Severe central nervous system disorders
  • Recurrent fever
  • Complete lack of glucoronyl transferase
  • High blood bilirubin level
  • Liver damage
  • Confusion
  • Yellow eyes
  • Yellow skin

Causes

At least 85 mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome have been identified. This condition occurs when both copies of the UGT1A1 gene in each cell are altered. Crigler-Najjar syndrome is characterized by high levels of unconjugated bilirubin in the blood (unconjugated hyperbilirubinemia) and yellowing of the skin and eyes (jaundice). Some affected individuals develop a form of brain damage called kernicterus due to the accumulation of unconjugated bilirubin in the brain, which can be lethal.

Mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome result in reduced or absent function of the bilirubin-UGT enzyme. People with Crigler-Najjar syndrome type 1 (CN1) have no enzyme function. The signs and symptoms of CN1 are more severe than those of CN2. 

Diagnosis

The phrase "signs of Crigler-Najjar syndrome, type 1" should, strictly speaking, refer only to those signs and symptoms of Crigler-Najjar syndrome, type 1 that are not readily apparent to the patient. The word "symptoms of Crigler-Najjar syndrome, type 1" is the more general meaning; see symptoms of Crigler-Najjar syndrome, type 1. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Crigler-Najjar syndrome, type 1. This medical information about signs and symptoms for Crigler-Najjar syndrome, type 1 has been gathered from various sources, may not be fully accurate, and may not be the full list of Crigler-Najjar syndrome, type 1 signs or Crigler-Najjar syndrome, type 1 symptoms. Furthermore, signs and symptoms of Crigler-Najjar syndrome, type 1 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Crigler-Najjar syndrome, type 1 symptoms.

Prognosis

Prognosis of Crigler-Najjar syndrome, type 1: usually death occurs within the first couple of years of life The 'prognosis' of Crigler-Najjar syndrome, type 1 usually refers to the likely outcome of Crigler-Najjar syndrome, type 1. The prognosis of Crigler-Najjar syndrome, type 1 may include the duration of Crigler-Najjar syndrome, type 1, chances of complications of Crigler-Najjar syndrome, type 1, probable outcomes, prospects for recovery, recovery period for Crigler-Najjar syndrome, type 1, survival rates, death rates, and other outcome possibilities in the overall prognosis of Crigler-Najjar syndrome, type 1. Naturally, such forecast issues are by their nature unpredictable.