Porphyria

porphyria /por·phy·ria/ (por-fer´e-ah) any of a group of disturbances of porphyrin metabolism characterized by increase in formation and excretion of porphyrins or their precursors.

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acute intermittent porphyria  (AIP) hereditary hepatic porphyria due to a defect of pyrrole metabolism, with recurrent attacks of abdominal pain, gastrointestinal and neurologic disturbances, and excessive amounts of d-aminolevulinic acid and porphobilinogen in the urine.

congenital erythropoietic porphyria  (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis.

porphyria cuta´nea tar´da  (PCT) a form characterized by cutaneous sensitivity that causes scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia; it is associated with reduced activity of an enzyme of heme synthesis.

erythropoietic porphyria  that in which excessive formation of porphyrin or its precursors occurs in bone marrow normoblasts, including congenital erythropoietic porphyria and erythropoietic protoporphyria.

hepatic porphyria  that in which the excess formation of porphyrin or its precursors occurs in the liver.

hepatoerythropoietic porphyria  (HEP) a severe form of porphyria cutanea tarda believed to result from a lack of activity of the enzyme catalyzing the conversion of uroporphyrinogen to coproporphyrinogen in the biosynthesis of heme.

variegate porphyria  (VP) a hereditary hepatic porphyria, with chronic skin manifestations, chiefly extreme mechanical fragility of the skin, mainly of areas exposed to sunlight, episodes of abdominal pain, neuropathy, and typically an excess of coproporphyrin and protoporphyrin in bile and feces.

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por·phyr·i·a (pôr-fîr-)

n.

Any of several disorders of porphyrin metabolism, usually hereditary, characterized by large amounts of porphyrins in the blood and urine.

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Porphyria

Any of a group of disturbances of porphyrin metabolism characterized by excess pophyrins (various biologically active compounds with a distinct structure) in the urine and by extreme sensitivity to light.

Mentioned in: Anticonvulsant Drugs, Barbiturates, Benzodiazepines, Hepatitis C, Psychosis, Sulfonamides

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porphyria

a group of inherited or acquired diseases in which there are abnormalities of porphyrin metabolism, with accumulation in the tissues and increased excretion of porphyrins.

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bovine congenital erythropoietic porphyria

inherited as an autosomal recessive trait in cattle; from birth, affected animals have varying degrees of reddish-brown discoloration of bones, teeth and urine, anemia and photosensitization, associated with a deficiency of the enzyme uroporphyrinogen III cosynthetase.

feline porphyria

inherited as an autosomal dominant trait; affected cats have discolored teeth, urine and tissues, severe anemia and photosensitivity associated with a deficiency of uroporphyrinogen III cosynthetase.

inherited porphyria

the disease is inherited in cattle and swine and is similar to erythropoietic porphyria of humans. There are excessive amounts of porphyrins in urine and deposits in the bones and teeth causing a dark red-brown discoloration. The animals are very photosensitive and cannot live outside. See also protoporphyria, hematoporphyrinuria, osteohematochromatosis.

pig porphyria

an erythropoietic porphyria, similar to bovine congenital erythropoietic porphoryia, but inherited as a dominant trait. Discoloration of the teeth, bones and tissues occurs, but not of the urine, except in severely affected cases. Photosensitization is not a feature. The enzymatic defect is unknown.