porphyria /por·phy·ria/ (por-fēr´e-ah) any of a group of disturbances of porphyrin metabolism characterized by increase in formation and excretion of porphyrins or their precursors.
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 δ-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.
hepatic porphyria that in which the excess formation of porphyrin or its precursors occurs in the liver.
(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
in bile and feces.