What is the Crigler-Najjar syndrome?
Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down.
What causes Crigler-Najjar syndrome?
Crigler-Najjar syndrome is caused by absent or defective uridine diphosphate glucuronosyltransferase-1A1 (UGT1A1), the enzyme responsible for the conjugation of bilirubin.
What is Crigler-Najjar syndrome type 2?
Summary. Listen. Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down.
What is the difference between Crigler-Najjar syndrome and Gilbert’s syndrome?
In the case of Gilbert syndrome two bases are inserted into the promoter of the gene. In Crigler-Najjar syndrome type I and II mutations lead to the exchange of amino acids, changes of the reading frame or to stop codons.
What is Crigler Najjar type 1?
Crigler Najjar syndrome , type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly.
How does Crigler Najjar affect the circulatory system?
The acute stage of the disease may show an increased heart rate, poor circulation of fluids through the organs (perfusion), improper alignment of the eyes, weak gag reflex, and muscle spasms.
What causes Gilbert’s syndrome?
An abnormal gene you inherit from your parents causes Gilbert's syndrome. The gene normally controls an enzyme that helps break down bilirubin in your liver. When you have an ineffective gene, your blood contains excess amounts of bilirubin because your body doesn't produce enough of the enzyme.