The genetic bases of the porphyrias
1Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
Abstract:
The porphyrias are disorders that result from the inherited or acquired dysregulation of one of the eight enzymes in the porphyrin-heme biosynthetic pathway. The different types of porphyrias often show overlapping findings with regard to clinical and/or biochemical features. Therefore, the establishment of screening methods for the identification of underlying mutations on the basis of direct DNA analysis may provide a more reliable approach for diagnosis of the different types of porphyrias. Here, we provide an overview of molecular biological screening techniques for mutations and the molecular bases of the porphyrias.
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