South African genetic porphyria

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.

porphyria erythropoietica

A mild form of porphyria characterized by cutaneous lesions and excess protoporphyrin in the erythrocytes and feces. Synonym: protoporphyria

porphyria hepatica

Porphyria caused by a disturbance in liver metabolism such as occurs following hepatitis, poisoning by heavy metals, and certain anemias.

South African genetic porphyria

Variegate porphyria.

variegate porphyria

Hepatic porphyria in which there are recurrent episodes of abdominal pain and neuropathy. The skin is esp. fragile. Synonym: South African genetic porphyria

单词	south african genetic porphyria
释义	DictionarySeeporphyriaEncyclopediaSeePorphyria South African genetic porphyria 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. porphyria erythropoietica A mild form of porphyria characterized by cutaneous lesions and excess protoporphyrin in the erythrocytes and feces. Synonym: protoporphyria porphyria hepatica Porphyria caused by a disturbance in liver metabolism such as occurs following hepatitis, poisoning by heavy metals, and certain anemias. South African genetic porphyria Variegate porphyria. variegate 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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