Hereditary hyperbilirubinemia | |
---|---|
Classification and external resources | |
Specialty | endocrinology |
ICD-10 | E80.4-E80.6 |
ICD-9-CM | 277.4 |
eMedicine | med/1065 med/1066 |
MeSH | D006933 |
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.
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.