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- Title
Heterogeneity of familial porphyria cutanea tarda.
- Authors
Roberts, A G; Elder, G H; Newcombe, R G; Enriquez de Salamanca, R; Munoz, J J
- Abstract
The concentration of immunoreactive uroporphyrinogen decarboxylase has been measured in erythrocytes from 17 patients with porphyria cutanea tarda (PCT) from 10 families, from 74 of their relatives, and from 47 control subjects. The 10 families were divided into two groups according to their erythrocyte enzyme concentrations. Group A contained four families in which at least two subjects had overt PCT. All members of these families, including seven patients with overt PCT, had normal erythrocyte uroporphyrinogen decarboxylase concentrations and activities. Apart from their family history, patients in group A were clinically and biochemically indistinguishable from cases of type I (sporadic) PCT. Group B contained six families with the only previously described form of familial PCT (type II PCT) in which decreased erythrocyte uroporphyrinogen decarboxylase segregates as an autosomal dominant trait. These findings show that familial PCT is heterogeneous and suggest that inheritance contributes to the pathogenesis of at least some cases of type I PCT.
- Publication
Journal of medical genetics, 1988, Vol 25, Issue 10, p669
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.25.10.669