[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: V Kürten, N J Neumann, J Frank
• Journal: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete (Hautarzt) Vol. 67 Issue 3 Pg. 201-6 (Mar 2016) ISSN: 1432-1173 [Electronic] Germany
• Vernacular Title: Diagnostik der Porphyrien : Von A (wie Aminolävulinsäure) bis Z (wie Zink-Protoporphyrin).
• PMID: 26743052 (Publication Type: Journal Article, Review)

Chemical References

• Biomarkers
• Protoporphyrins
• zinc protoporphyrin
• Aminolevulinic Acid

Topics

• Aminolevulinic Acid (urine)
• Biomarkers (blood)
• Diagnosis, Differential
• Porphyrias (diagnosis, urine)
• Protoporphyrins (urine)
• Reproducibility of Results
• Sensitivity and Specificity
• Skin Diseases (diagnosis, urine)