Hereditary hyperbilirubinemia
Hereditary hyperbilirubinemia | |
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Bilirubin levels are increased by this condition | |
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 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[]
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Management[]
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References[]
- ^ Reference, Genetics Home. "Crigler-Najjar syndrome". Genetics Home Reference.
Further reading[]
- 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.
External links[]
Categories:
- Syndromes
- Heme metabolism disorders
- Hepatology
- Genetic disorder stubs
- Endocrine, nutritional and metabolic disease stubs