Neha Patil (Editor)

Hereditary hyperbilirubinemia

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Specialty
  
endocrinology

ICD-9-CM
  
277.4

MeSH
  
D006933

ICD-10
  
E80.4-E80.6

eMedicine
  
med/1065 med/1066

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.

References

Hereditary hyperbilirubinemia Wikipedia


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