Hereditary_hyperbilirubinemia

Hereditary hyperbilirubinemia

Hereditary hyperbilirubinemia

Medical condition

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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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

Management

References

  1. [1]
    Reference, Genetics Home. "Crigler-Najjar syndrome". Genetics Home Reference.

Further reading


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