CriglerNajjarkór

Crigler-Najjar syndrome is a rare inherited disorder that affects how the body processes bilirubin, a yellow pigment produced during the normal breakdown of red blood cells. This condition is caused by mutations in the UGT1A1 gene, which provides instructions for making an enzyme called UDP-glucuronosyltransferase 1A1. This enzyme is crucial for converting bilirubin into a form that can be excreted from the body.

There are two main types of Crigler-Najjar syndrome. Type 1 is more severe, with almost complete absence of the enzyme's activity. Individuals with Type 1 can develop extremely high levels of unconjugated bilirubin, leading to a serious neurological condition called kernicterus, which can cause permanent brain damage. Treatment typically involves frequent phototherapy (light treatment) to break down bilirubin and, in some cases, liver transplantation.

Type 2 is less severe, with some residual enzyme activity. While bilirubin levels are elevated, kernicterus is rare. People with Type 2 may be treated with phenobarbital, a medication that can increase the enzyme's activity. Both types are inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

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