Abstract
The porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future.
Original language | English |
---|---|
Pages (from-to) | 18-28 |
Journal | Skin Pharmacology and Physiology |
Volume | 23 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2010 |
Keywords
- Porphyria
- Heme biosynthesis
- Photosensitivity
- Acute porphyria attack
- Investigative tools
- Molecular therapeutics