title: [Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)].
abstract: The porphyrias comprise a clinically, biochemically, and genetically heterogeneous group of predominantly hereditary metabolic disorders resulting from a dysfunction along the heme biosynthetic pathway. Whereas most variants can manifest with different cutaneous symptoms, some types only reveal life-threatening acute neurovisceral attacks. Therefore, interdisciplinary care of these patients is advisable. In this article, we provide an overview of characteristic clinical and laboratory findings in the various forms of porphyria and a diagnostic algorithm.
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
authors.forename: V
authors.initials: V
authors.lastname: Kürten
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
authors.forename: N J
authors.initials: NJ
authors.lastname: Neumann
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland. jorge.frank@med.uni-duesseldorf.de.
authors.forename: J
authors.initials: J
authors.lastname: Frank
mesh_terms: D000622:Aminolevulinic Acid / Q000652:urine*; D015415:Biomarkers / Q000097:blood; D003937:Diagnosis, Differential; D011164:Porphyrias / Q000175:diagnosis* / Q000652:urine; D011524:Protoporphyrins / Q000652:urine*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012871:Skin Diseases / Q000175:diagnosis* / Q000652:urine
chemical_list: D015415:Biomarkers; D011524:Protoporphyrins; C017803:zinc protoporphyrin; D000622:Aminolevulinic Acid
keywords: Blood analysis; Diagnostics, enzyme deficiency; Heme biosynthesis; Stool analysis; Urine analysis