Crigler-Najjar syndrome is a rare genetic disorder that affects the body's ability to process a substance called bilirubin. Bilirubin is a yellow pigment that is produced when red blood cells are broken down. In individuals with Crigler-Najjar syndrome, the liver is unable to properly convert bilirubin into a form that can be easily excreted from the body. As a result, bilirubin levels in the blood can become dangerously high, leading to a condition called hyperbilirubinemia.
It is important to note that Crigler-Najjar syndrome is not contagious. It is an inherited condition that is passed down from parents to their children through genetic mutations. The syndrome is caused by mutations in a gene called UGT1A1, which is responsible for producing an enzyme called bilirubin uridine diphosphate glucuronosyltransferase (UGT). This enzyme is necessary for the proper breakdown and elimination of bilirubin.
Individuals with Crigler-Najjar syndrome typically inherit the condition in an autosomal recessive manner, meaning that they must inherit two copies of the mutated gene (one from each parent) in order to develop the syndrome. If an individual only inherits one copy of the mutated gene, they are considered carriers of the condition but do not typically experience symptoms.
It is important for individuals with Crigler-Najjar syndrome to receive appropriate medical care and management. Treatment options may include phototherapy, which involves exposing the skin to special lights that help break down bilirubin, or in severe cases, liver transplantation. Regular monitoring of bilirubin levels and close medical supervision are crucial to prevent complications associated with high bilirubin levels, such as brain damage.