Abstract
Approriate laboratory tests are a necessity to establish the diagnosis of a porphyria. This chapter describes the more frequently required tests such as urinary porphyrins, porphobilinogen and aminolevulinic acid as well as those ones performed only at specialist porphyria centers including enzyme activity determinations, and analyses in feces, plasma and erythrocytes. These tests as a whole enable to diagnose in symptomatic patients any inherited defect of one of the seven enzymes of porphyrin biosynthesis. They are the basis for further genetic analyses of the defective enzymes.
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Minder, E., Schneider-Yin, X. (2008). Porphyrins, Porphobilinogen, and δ-Aminolevulinic Acid. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_33
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DOI: https://doi.org/10.1007/978-3-540-76698-8_33
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