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

✍ Scribed by L. D'Alessandro; D. Griso; G. Biolcati; A. Macri; G. C. Topi

Publisher
Springer-Verlag
Year
1992
Tongue
English
Weight
315 KB
Volume
284
Category
Article
ISSN
0340-3696

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✦ Synopsis

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.

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✍ Maurizio Sampietro; Alberto Piperno; Loredana Lupica; Cristina Arosio; Anna Verg πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 67 KB πŸ‘ 1 views

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A