title: The genetic bases of the porphyrias.
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.
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000208:Acute Disease; D002908:Chronic Disease; D004247:DNA / Q000032:analysis; D004798:Enzymes / Q000097:blood*; D005544:Forecasting; D006418:Heme / Q000096:biosynthesis*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011164:Porphyrias / Q000235:genetics*
chemical_list: D004798:Enzymes; D006418:Heme; D004247:DNA