Porphobilinogen deaminase activity in patients with variegate porphyria

Özet

The activity of porphobilinogen deaminase in the erythrocytes in various stages of the disease in 42 patients with variegate porphyria was studied. At the same time porphyrin precursors excretion with urine and porphyrin elimination in urine and faeces of all patients were determined. During porpyria attack and in the convalescence period the activity of the enzyme was 20.5% higher than in healthy subjects. On the other hand, this activity was reduced by 25.3% in remission and by 15.6% in subjects who never had attacks. These results suggest that the cause of increased activity of porphobilinogen deaminase during the attack is due to greater synthesis of porphyrin precursors, however the induction of the enzyme is insufficient to convert the substrate excess. Turk J Haematol 1997; 14:101-104.