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.

Is Crigler Najjar fatal?

Crigler-Najjar syndrome (CNS), named for the two physicians who first described the condition in 1952, John Crigler and Victor Najjar, is a rare, life-threatening inherited condition that affects the liver. CNS is characterized by a high level of a toxic substance called bilirubin in the blood (hyperbilirubinemia).

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 syndrome affect the circulatory system?

Crigler-Najjar Syndrome Diagnosis 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.

How do you diagnose Crigler-Najjar?

Molecular genetic testing can confirm a diagnosis of Crigler-Najjar syndrome. Molecular genetic testing can detect mutations in the UGT1A1 gene that are known to cause the disorder, but is available only as a diagnostic service at specialized laboratories.

What is the difference between Gilbert syndrome and Crigler-Najjar?

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.

How can you tell the difference between Crigler-Najjar and Gilbert?

What is Crigler-Najjar syndrome type 2?

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 Lucey Driscoll syndrome?

Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn’s blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver.

What is the difference between Crigler-Najjar syndrome type 1 and type 2?

Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe.

What is the difference between Crigler Najjar and Gilbert?

Morbus Gilbert is a mild hyperbilirubinemia, which is only of significance in case of drug therapy or differential diagnosis. Crigler-Najjar syndrome II leads to a more serious kind of hyperbilirubinemia.