Dictionary of Human Evolution and Biology

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Porphyria Variegata

Less common form of several types of inherited porphyria, the variegate form is characterized by a failure to metabolize the porphyrin ring in hemoglobin and results in obvious red urine; other clinical symptoms include photosensitivity, abdominal pain, constipation, weak limbs, rapid heartbeat, hoarseness, and mental confusion with periodic stupor. Manifests in the fifth decade of life. Porphyria variegata is an autosomal dominant, pleiotropic disease that, like hemophilia, segregated in the royal families of Europe. The symptoms can manifest in various forms, giving the appearance of several diseases; there is also a recessive mode. Although the variegata form is the most celebrated, porphyria cutanea tarda is the most common form; each involves a different gene in the porphyrin pathway.

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