PV (Porphyria Variegata)

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A positive link - the PV Gene. (Porphyria Variegata)
In 1947, Dr Geoffrey Dean, living in South Africa became aware of patients with an unusual illness. Since the source was unknown, he was not able to provide a targetted therapy and often the patient could not be saved and died a horrible death.
Dean suspected that it was a disturbance of the metabolism, but in a form which was unknown in Europe.
He research took him all over the world, though he found that the PV Illness occurred mostly among farming families in South Africa. This in turn was traced back to a source in The Netherlands, dating back to 1688, from where many farmers migrated to South Africa.  It is thought that one of the crew members of the Zuytdorp carried the PV Gene to Australia where the ship wreck occurred.

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 porphyriasprimarily present with nervous system involvement, often with severe abdominal painvomitingneuropathy 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.  (Wikipedia)


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