Porphyria Diagnostics Part 3: Biochemical Protocols for the Diagnosis of Porphyrias

Porphyrins and porphyrin precursors are derived from intermediates in the heme biosynthetic pathway. Accurate measurement of these biochemicals is important for the diagnosis and monitoring of porphyrias. The biochemical protocols described in Part 3 include measurements of porphyrin precursors and porphyrins in the urine, feces, plasma, erythrocytes, and liver and determination of specific enzyme activities in erythrocytes and other cells. The basic protocols detailed here are needed for cost-effective first-line testing (i.e., screening) that emphasizes sensitivity for detecting or ruling out porphyrias in patients presenting with suggestive symptoms. They are also necessary for the more extensive testing that follows when first-line testing is positive. © 2026 Wiley Periodicals LLC. Basic Protocol 1: Measuring delta-aminolevulinic acid in urine samples Basic Protocol 2: Measuring porphobilinogen in urine samples Basic Protocol 3: Measuring total porphyrins in urine samples Basic Protocol 4: Measuring total porphyrins in fecal samples Basic Protocol 5: Measuring total porphyrins in plasma and recording fluorescence scan Basic Protocol 6: Measuring porphobilinogen in serum samples Basic Protocol 7: Measuring total, metal-free, and zinc protoporphyrin in erythrocytes Basic Protocol 8: Measuring porphobilinogen deaminase enzyme activity in erythrocytes Basic Protocol 9: Measuring uroporphyrinogen decarboxylase enzyme activity in erythrocytes Basic Protocol 10: Measuring total porphyrins in liver tissues.