Porphyrins are natural chemicals that are found in your body. They are an important part of many
of your body’s functions. Usually, your body makes a small amount of porphyrins when it produces
heme. Heme is an important component of hemoglobin, the protein in red blood cells that carries
oxygen. Heme production involves a multistep process, and a different enzyme controls each step. If
one of these enzymes is defective, this can cause porphyrins to build up in your body and potentially
reach toxic levels. This causes the clinical disease porphyria.
Porphyrin urine testing is used to help diagnose and sometimes to monitor porphyrias. A 24-hour
urine test is painless and just requires a simple urine collection done in three stages.
• Urine test for porphobilinogen (PBG), a porphyrin precursor, is the primary test.
• If the result of the PBG test is abnormal, urine porphyrin testing, which measures
uroporphyrin and coproporphyrin, may be ordered to provide additional information on the
type of neurologic porphyria that is present.
• Aminolevulinic acid (ALA), another porphyrin precursor, is used to diagnose the rare ALA
dehydratase deficiency porphyria.