South African genetic porphyria
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porphyria(por-fir'e-a) [ porphyro- + -ia]
A group of disorders that result from a disturbance in any of the sequential steps involved in the synthesis of heme, causing increased formation and excretion of porphyrin or its precursors.
acute intermittent porphyria
A rare autosomal dominant disorder characterized by excessive excretion of porphyrins, episodes of acute abdominal pain, sensitivity to light, and neurological disturbances. The disorder is sometimes precipitated by the excessive use of sulfonamides, barbiturates, or other drugs.
congenital erythropoietic porphyria
A rare autosomal recessive disorder characterized by severe skin lesions, hemolytic anemia, and splenomegaly.
porphyria cutanea tarda
Porphyria in which patients develop liver disease and rashes on parts of their bodies exposed to the sun, e.g., on the knuckles or face. The use of alcohol or estrogens may aggravate the condition. The cause is a deficiency of uroporphylinogen decarboxylase.
A mild form of porphyria characterized by cutaneous lesions and excess protoporphyrin in the erythrocytes and feces. Synonym: protoporphyria
Porphyria caused by a disturbance in liver metabolism such as occurs following hepatitis, poisoning by heavy metals, and certain anemias.
South African genetic porphyriaVariegate porphyria.
Hepatic porphyria in which there are recurrent episodes of abdominal pain and neuropathy. The skin is esp. fragile.Synonym: South African genetic porphyria
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