Autosomal recessive disorder. The condition causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes. There is a difficulty in the ability of hepatocytes to secrete conjugated bilirubin into the bile.
Cause(s) : Autosomal recessive gene disorder due to loss of function mutation Symptoms and signs: Usually asymptomatic, but may be diagnosed with tests in infancy.
Diagnosis and Tests :
Darkly pigmented liver (due to polymerized epinephrine metabolites)
Urine tests for porphyrins
Autopsy of liver (reveals dark pink or black appearance due to pigment accumulation)
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