Hereditary hyperbilirubinemia explained

Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder.

An example is Crigler–Najjar syndrome.

Symptoms and signs

UGT1A1 gene mutations causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT enzyme. Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ability of the enzyme.^[1]

Further reading

• Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL . Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia . J. Clin. Invest. . 84 . 2 . 476–83 . August 1989 . 2760197 . 10.1172/JCI114189 . 548906.

Notes and References

1. Web site: Crigler-Najjar syndrome. Genetics Home. Reference. Genetics Home Reference.