25 Jul
The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. This assay is useful for evaluation ofa suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. It is
recommended that specimen is collected during the acute phase. Porphobilinogen may be normal when the patient is not exhibiting symptoms.