Porphyria refers to a group of rare disorders caused by abnormalities in heme biosynthesis, the process that produces heme, a component of hemoglobin essential for oxygen transport in red blood cells and for other biological functions. These disorders result from deficiencies of enzymes involved in the heme synthesis pathway, leading to the accumulation of porphyrins or their precursors.

Detection of porphyria involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical testing includes measuring levels of porphyrins and their precursors in urine, blood, or stool samples, as well as assessing enzyme activities involved in heme biosynthesis.