Physiol Res 2006 ;55 Suppl 2:S137-144
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.
The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. 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 specific enzyme assays. Read More