Porphyrias Testing Algorithm

Porphyrias are a group of inherited or acquired enzyme disorders of the heme biosynthetic pathway that result in overproduction of porphyrins or porphyrin precursor compounds. They are split into two categories: acute (eg, acute intermittent porphyria) or cutaneous (porphyria cutanea tarda). An initial workup for porphyrias includes testing for porphobilinogen, porphyrins, and/or erythrocyte porphyrins.