we conclude that clinically manifested hepatoerythropoietic porphyria results from the homozygous inheritance of a defect in the uroporphyrinogen decarboxylase gene , that the severity of clinical symptoms is probably related to the level of residual enzyme activity , and that the genetic defect of uroporphyrinogen decarboxylase in hepatoerythropoietic porphyria can be heterogeneous .
C1421374
uroporphyrinogen decarboxylase
C0162569
hepatoerythropoietic porphyria