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26 Apr 2004

Variegate Porphyria
I tried in vain to reply to J's mail on VP with no luck.
We have been living with VP in our family for generations! We have the South African mutation R59W confirmed by Prof Peter Meissner at UCT. I suggest that you URGENTLY
have your whole family tested at the University of Cape Town, because the testing of porphyria is very problematic all over the world! It is not a disease but porphyrias are a group of metabolic disorders usually hereditary in nature, characterized by disordered haem synthesis which results in elevated levels of porphyrins. It is prevalent in mainly white
3/100 people of Afrikaans descent. Visit the University of Cape Town website for excellent info on Porph.
Answer 268 views
Expert
Geneticist
geneticist

01 Jan 0001

Dear Celia

Thanks for your effort. Genetic testing for VP is indeed very important.

Regards, Maritha
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