The porphyrias are inherited disturbances in heme biosynthesis. Each of the nine major types causes a unique pattern of overproduction, accumulation, and excretion of intermediates of heme synthesis. These disorders are classified as either hepatic or erythropoietic, depending on the primary site of overproduction and accumulation of the porphyrin precursor or porphyrin. The major manifestations of the hepatic porphyrias are neurologic (neuropathic abdominal pain, neuropathy, and mental disturbances), whereas the erythropoietic porphyrias characteristically cause cutaneous photosensitivity. Laboratory testing is required to confirm or exclude the various types of porphyria. However, a definite diagnosis requires demonstration of the specific enzyme deficiency or gene defect. Only the three most common porphyrias are discussed here.
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