Hereditary hyperbilirubinemia
Bilirubin levels are increased by this condition
SpecialtyEndocrinology Edit this on Wikidata

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]

Diagnosis

Management

References

  1. Reference, Genetics Home. "Crigler-Najjar syndrome". Genetics Home Reference.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.