What is the most common inherited defect of bilirubin metabolism?

What is the most common inherited defect of bilirubin metabolism?

Gilbert’s syndrome is the most common inherited disorder of bilirubin glucuronidation. Affected individuals exhibit isolated unconjugated hyperbilirubinemia, with levels as high as 6mg/dl occurring in the setting of fasting, febrile illness, or physical stress.

What are the congenital disorders of bilirubin metabolism?

Forms of chronic conjugated hyperbilirubinemia are Dubin-Johnson syndrome, Rotor syndrome, Alagille syndrome or arteriohepatic dysplasia, Wilson disease or hepatolenticular degeneration. Liver or liver cell transplantation is the therapy in some cases.

What are the disorders of hyperbilirubinemia?

Dubin-Johnson syndrome is a rare genetic liver disorder characterized by elevated levels of bilirubin in blood (hyperbilirubinemia). Persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice) is usually the only symptom in most cases.

How is Gilbert’s syndrome inherited?

Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have the mutation.

What causes Gilbert syndrome?

An abnormal gene you inherit from your parents causes Gilbert’s syndrome. The gene normally controls an enzyme that helps break down bilirubin in your liver. When you have an ineffective gene, your blood contains excess amounts of bilirubin because your body doesn’t produce enough of the enzyme.

Is Dubin-Johnson an inborn error of metabolism?

In another inborn error of metabolism, called the Dubin-Johnson syndrome, there is a blockade of the excretion of bilirubin into the canaliculi, caused by defects in the adenosine triphosphate (ATP)–binding cassette (ABC) canalicular multispecific organic anion transporter, MRP2/cMOAT/ABCC2.

Is bilirubin inherited?

Bilirubin is produced by the breakdown of red blood cells. If you have Gilbert’s syndrome — also known as constitutional hepatic dysfunction and familial nonhemolytic jaundice — you’re born with the condition as a result of an inherited gene mutation.

What is the difference between Crigler-Najjar and Gilbert?

Symptoms of this disorder (if any) may result from reduced activity of the liver UGT1A1 enzyme. Gilbert syndrome is caused by mutations of the same gene that causes Crigler-Najjar syndrome, but affected individuals maintain about one third of the normal activity of the UGT1A1 enzyme.

What causes unconjugated hyperbilirubinemia?

Hyperbilirubinemia in children is usually unconjugated and most often caused by problems with red blood cell stability and survival or by defects in the bilirubin-conjugating enzyme, UGT. In contrast, disorders that result in conjugated hyperbilirubinemia are usually caused by intrinsic liver dysfunction.