- congenital photosensitive porphyria
- congenital erythropoietic p.
Medical dictionary. 2011.
congenital photosensitive porphyria
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congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… … Medical dictionary
Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. The porphyrias are caused by enzyme defects that trigger the overproduction of porphyrins by the… … Medical dictionary
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Photosensitivity in animals — Photosensitivity reactions, aka photosensitization, are abnormal skin reactions in animals when exposed to direct sunlight. It is unrelated to a sunburn. These reactions are due to the accumulation of photosensitive compounds beneath the skin.… … Wikipedia
