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Gilbert Syndrome

Gilbert syndrome is a common but harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells) is abnormal..

This enzyme abnormality results in mild elevations of bilirubin pigment in the blood. Bilirubin levels tend particularly to be increased in Gilbert syndrome with starvation or dehydration.

The elevated bilirubin pigment can sometimes cause mild yellowing ( jaundice ) of the eyes. People with Gilbert syndrome are otherwise entirely normal with no other signs or symptoms and their liver enzymes in blood serum are also entirely normal.

There is no need for treatment, and the prognosis (outlook) is excellent.

The gene for Gilbert syndrome has been mapped to chromosome 2. The syndrome is inherited in an autosomal dominant manner. If someone has Gilbert syndrome, the chance of their transmitting the Gilbert gene to each of their children is one-half (50%) and each child who receives the gene has Gilbert syndrome.

Gilbert syndrome is a frequent finding in people in the United States and Europe. The condition is usually detected serendipitously (purely by accident) in the course of routine blood screening. Gilbert syndrome is thus an accidentally-encountered enzyme abnormality of no consequence. Medically, it is merely a red (or yellow) herring.

Gilbert syndrome is caused by mutation in the UDP-glucuronosyltransferase gene. Mutations in the same gene cause the Crigler-Najjar syndrome, which is a more severe and dangerous form of hyperbilirubinemia (high bilirubin in the blood).

 

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