Hereditary hyperbilirubinemia
| Hereditary hyperbilirubinemia | |
|---|---|
| Specialty | Endocrinology  |
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
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]
References
External links
- http://www.som.tulane.edu/classware/pathology/medical_pathology/New_for_99/liver_gb/sld017.htm
- Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL (August 1989). "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia". J. Clin. Invest. 84 (2): 476–83. doi:10.1172/JCI114189. PMC 548906. PMID 2760197.
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