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porphyria
The porphyrias are a group of rare diseases in which chemical substances called porphyrins accumulate. The body requires porphyrins to produce heme, which carries oxygen in the blood; but, in the porphyrias, there is a deficiency (inherited or acquired) of the enzymes that transform the various porphyrins into others, leading to abnormally high levels of one or more of these substances. This manifests with either neurological complications or skin problems or occasionally both.
Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily cause brain and nerve involvement, often with severe abdominal pain, vomiting, neuropathy and mental disturbances. Cutaneous porphyrias cause with skin manifestations often after exposure to sunlight, as porphyrins react with light. Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or bone marrow and red blood cells.〔
The term ''porphyria'' is derived from the Greek πορφύρα, ''porphyra,'' meaning "purple pigment", a reference to the color of the porphyrins. Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1871 and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.〔 Reprinted in 〕
==Signs and symptoms==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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