Hereditary hyperbilirubinemia: Difference between revisions
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| name = Hereditary hyperbilirubinemia |
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| caption = Bilirubin levels are increased by this condition |
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'''Hereditary hyperbilirubinemia''' refers to the condition where levels of [[bilirubin]] are elevated, for reasons that can be attributed to a [[metabolic disorder]]. |
'''Hereditary hyperbilirubinemia''' refers to the condition where levels of [[bilirubin]] are elevated, for reasons that can be attributed to a [[metabolic disorder]]. |
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==Further reading== |
==Further reading== |
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* {{cite journal |vauthors=Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL |title=Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia |journal=J. Clin. Invest. |volume=84 |issue=2 |pages=476–83 |date=August 1989 |pmid=2760197 |doi=10.1172/JCI114189 |pmc=548906}} |
* {{cite journal |vauthors=Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL |title=Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia |journal=J. Clin. Invest. |volume=84 |issue=2 |pages=476–83 |date=August 1989 |pmid=2760197 |doi=10.1172/JCI114189 |pmc=548906}} |
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==External links== |
== External links == |
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{{Medical resources |
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| ICD9 = {{ICD9|277.4}} |
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| MeshID = D006933 |
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{{Heme metabolism disorders}} |
{{Heme metabolism disorders}} |
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Revision as of 13:23, 4 March 2018
| 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
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
![[icon]](/https/en.wikipedia.org/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (September 2017) |
Management
| This section is empty. You can help by adding to it. (September 2017) |
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
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