Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population

Abstract

The determination of the enzymatic activity of URO-D in erythrocytes is the screening method used for differentiation between hereditary and non-hereditary forms of porphyria cutanea tarda (PCT). The aim of the present work was to establish the relative frequencies of the symptomatic and hereditary forms by the determination of the URO-D enzyme in the PCT patients who were regularly treated at the Centre for Porphyrins in our Institute. In the course of this work we also examined the statistical properties of the distributions of both normal and porphyric subjects, so as to be able to suggest values for discriminating between normal subjects and the various types of porphyric subjects.

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene

“…To overcome this dilemma, diverse laboratory techniques are available. Previously, the measurement of erythrocyte UROD activity has been proposed as a screening technique to distinguish between S‐PCT and F‐PCT 23,29,30 . While a patient with S‐PCT is expected to display normal UROD values, residual enzymatic activity in a patient with F‐PCT should be diminished to about 50% 23,31 .…”