hyperbilirubinaemia, Rotor type
hyperbilirubinaemia, Rotor typeAn autosomal recessive form (OMIM:237450) of primary conjugated hyperbilirubinaemia characterised by mild jaundice unassociated with haemolysis that typically develops shortly after birth or in childhood. Patients have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Liver pigmentation is normal.
Caused by defects in SLCO1B1 and SLCO1B3, which encode liver-specific organic transmembrane receptors that play a key role in bile acid and bilirubin transport and clearance.
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