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Hereditary hyperbilirubinemia
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Hereditary hyperbilirubinemia
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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.
Diagnosis
Management
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
Classification | |
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External resources |
Heme metabolism disorders
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Porphyria, hepatic and erythropoietic (porphyrin) |
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Hereditary hyperbilirubinemia (bilirubin) |
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