hormonal and metabolic disorders
Overview of Porphyrias
Diagnosis of Porphyrias
Measuring porphyrins and porphyrin precursors in the urine or blood Genetic testing Blood and urine can be tested for porphyrins or their precursor forms. In many of the porphyrias, the urine may take on a red or reddish brown discoloration. Sometimes the discoloration appears only after the urine has stood in air and light for minutes to hours. Doctors diagnose porphyrias by measuring porphyrins and porphyrin precursors in the urine. Several diseases unrelated to porphyrias, such as blood disorders or liver disorders, and exposures to certain medications or to toxins such as alcohol, benzene, and lead, may themselves increase the amount of urine porphyrins. This phenomenon is described as secondary porphyrinuria. It is a common cause of erroneous over-diagnosis of porphyria. 