Dual porphyrias revisited.
The porphyrias are clinically and genetically heterogeneous metabolic diseases, which predominantly result from a hereditary dysfunction in the pathway of haeme biosynthesis. Currently, at least eight different forms of porphyrias can be differentiated, all of them characterized by a specific enzyme deficiency that is either inherited in an autosomal-dominant fashion, autosomal recessively or, in the case of porphyria cutanea tarda, might also be acquired. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings and enzyme assays. In some porphyria patients and families, however, these diagnostic tools can reveal simultaneous findings compatible with two different forms of porphyria, a phenomenon referred to as dual porphyria. Here, we give an overview on what is currently known about these peculiar variants of porphyria and suggest that, whenever feasible, molecular genetic analysis should complement the analytical techniques used to characterize patients and families in which a double enzymatic deficiency within the haeme biosynthetic pathway is assumed.
Poblete-Gutiérrez
Pamela
P
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.
Badeloe
Sadhanna
S
Wiederholt
Tonio
T
Merk
Hans F
HF
Frank
Jorge
J
D004252:DNA Mutational Analysis; D006801:Humans; D025202:Molecular Diagnostic Techniques; D011164:Porphyrias / Q000150:complications / Q000175:diagnosis / Q000209:etiology*; D012873:Skin Diseases, Genetic / Q000150:complications / Q000175:diagnosis / Q000209:etiology