Porphyria

Porphyria

The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest 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 present with nervous system involvement, often with severe abdominal pain, vomiting, neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin. 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". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack. 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.

Read more about Porphyria:  Pathogenesis, Epidemiology, Culture and History, Notable Cases

Other articles related to "porphyria, porphyrias":

PPOX - Related Conditions
... Variegate porphyria is caused by mutations in the PPOX gene ... More than 100 mutations that can cause variegate porphyria have been identified in the PPOX gene ... of South African families with variegate porphyria ...
"Porphyria's Lover" As Tableau Vivant
... The mirrored effect produced by Porphyria's modelling of the persona in the first half, and the persona's reciprocal modelling of her after strangulation is ... indicative of the allegorical content of "Porphyria's Lover" in which both characters imitate the process of artistic creation when art is created or published, it is dead and forever unchanging ... In the last few lines of the poem, Porphyria is manipulated in much the same way as the speaker was in the first few lines of the poem ...
Hepatoerythropoietic Porphyria
... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD) ... It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset ... and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2 ...
Porphyria - Notable Cases
... in a paper "The Insanity of King George III A Classic Case of Porphyria", with a follow-up in 1968, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia" ... team, were written as though the case for porphyria had been proven, but the response demonstrated that many, including those more intimately familiar with actual ... Purple Secret, which documents the ultimately unsuccessful search for genetic evidence of porphyria in the remains of royals suspected to suffer from it ...
Alcohol And Cancer - Genetic Variation and Cancer Risk
... Several European studies have linked the inherited hepatic porphyrias with a predisposition to hepatocellular carcinoma ... Typical risk factors for HCC need not be present with the acute hepatic porphyrias, specifically acute intermittent porphyria, variegate porphyria and hereditary coproporphyria ... Porphyria cutanea tarda is also associated with HCC, but with typical risk factors including evidence of hepatotropic viruses, hemochromatosis and alcoholic cirrhosis ...