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Defect in hepatocellular secretion of conjugated bilirubin
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Autosomal recessive
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Mutations in
ABCC2 (
CMOAT /
MRP2) gene, which codes for ATP-dependent organic anion transport localized to canalicular membrane
Results in impaired biliary canalicular transport of organic anions including conjugated bilirubin
Impaired glutathione excretion reduces bile salt-independent bile flow
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Incidence
Rare
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Age
Develop jaundice in teenage years
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Sex
M = F
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Ethnicity
Prevalence highest among Moroccan and Iranian Jews (1:1,300)
corresponding to the pigment within centrizonal hepatocytes.
