Gilbert's syndrome (English pronunciation: /ʒiːlˈbɛər/, zheel-bair), often shortened to GS, also called Gilbert-Meulengracht syndrome, is the most common hereditary cause of increased bilirubin and is found in up to 5% of the population (though some gastroenterologists maintain that it is closer to 10%). It has an autosomal recessive pattern of inheritance. A major characteristic is jaundice, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia).
The cause of this hyperbilirubinemia is the reduced activity of the enzyme glucuronyltransferase, whichconjugates bilirubin and some other lipophilic molecules. Conjugation renders the bilirubin water-soluble, after which it is excreted in bile into the duodenum.
Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice, often leading to brain damage in infants.
This syndrome is divided into two types: type I and type II, with the latter sometimes called Arias syndrome. These two types, along with Gilbert's syndrome, Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Unlike Gilbert's syndrome, only a few hundred cases of CNS are known to exist.
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