To make a diagnosis, the relevant presenting symptoms and a detailed patient history must be considered in addition to obtaining biomarkers in the urine or blood. These biomarkers include urine porphobilinogen (PBG),<unk> <unk>  (ALA), and porphyrins found in blood and urine. PBG levels fluctuate and are best measured during the onset of acute symptoms. ALA levels are increased in ADP and correlate with the severity of the disease. If levels of porphyrins are significantly elevated, DNA testing can be performed to determine the specific mutations in the ALAD gene. DNA analysis is the most specific test for making a diagnosis of ADP. Both lead poisoning and succinylacetone, whose levels are increased in tyrosinemia type I, inhibit ALAD. Therefore, these conditions should also be considered when elevated levels of porphyrins are found.
Aminolevulinic acid dehydratase deficiency porphyria
Harderoporphyria
Pseudoporphyria
Hepatoerythropoietic porphyria
Donath–Landsteiner hemolytic anemia
Erythropoietic porphyria
Hepatic porphyria
Erythropoietic protoporphyria