Gilbert Syndrome
Medical Author: Melissa Conrad Stöppler, MD
Medical Editor: William C. Shiel, Jr., MD, FACP, FACR
What is Gilbert syndrome?
Gilbert Syndrome is a common, 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. The
condition has also been referred to as constitutional hepatic dysfunction and
familial nonhemolytic jaundice. The enzyme abnormality in Gilbert syndrome
results in mild elevations of bilirubin in the blood, particularly after
starvation or dehydration.
What causes Gilbert syndrome?
Gilbert syndrome is the result of a genetic mutation in the promoter region
of a gene for the enzyme UGT1A (one of the enzymes called UGT
glucuronosyltransferases that are important for bilirubin metabolism). The gene
is located on chromosome 2. Other types of 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).
People with two copies of the abnormal promoter region for the UGT1A gene
(one inherited from each parent) have Gilbert's syndrome and elevated bilirubin
levels, suggesting an autosomal recessive mode of inheritance. This means that
both parents require the gene for expression of the abnormality in the
offspring.
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.
Next: What are the symptoms of Gilbert syndrome? »
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