Porphyrins in Rotor's syndrome: a study on an Italian family

Porphyrins in urine, plasma, erythrocytes and feces have been tested in two brothers affected by Rotor's syndrome and in three of their phenotypically normal relatives. In all five subjects normal values of delta-aminolevulinic acid and porphobilinogen in urine, and of prophyrins in plasma, erythrocytes and feces, were found. The two patients showed a marked increase in total urinary coproporphyrin excretion with a high percentage of isomer I. These observations confirm the hypothesis of a different route of the porphyrin excretion in Rotor's syndrome with a shift from the fecal route to the urinary one, and do not agree with the suggestion of an increased hepatic porphyrin production in this type of hyperbilirubinemia.