The porphyrias: clinic, diagnostics, novel investigative tools and evolving molecular therapeutic strategies.
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.
van Serooskerken
A-M van Tuyll
AM
Department of Dermatology and Maastricht University Center for Molecular Dermatology (MUCMD) and Euregional Porphyria Center Maastricht and GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands.
Poblete-Gutiérrez
P
P
Frank
J
J
D000818:Animals; D004195:Disease Models, Animal; D056947:Enzyme Replacement Therapy / Q000379:methods; D015316:Genetic Therapy / Q000379:methods; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D011164:Porphyrias / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D012873:Skin Diseases, Genetic / Q000235:genetics / Q000473:pathology / Q000628:therapy*
D006418:Heme