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Learn About Variegate Porphyria

What is the definition of Variegate Porphyria?
Variegate porphyria (VP) causes the abnormal production of heme, an important part of the protein in blood that carries oxygen throughout our bodies. It is used in all the body's organs. Symptoms of VP usually begin in adulthood and are different from person to person. Symptoms may include sun sensitivity and the development of skin blisters and sores when exposed to sunlight. Some people with VP have episodes (acute attacks) of severe stomach pain, nausea and vomiting. In some cases, muscle weakness, anxiety, and seizures may occur. Variegate porphyria is caused by genetic changes in the PPOX gene and is inherited in an autosomal dominant pattern. Some people who have PPOX gene variants never have symptoms of porphyria. Diagnosis of VP is based on the symptoms, clinical examination, and other blood and urine tests. The diagnosis may be confirmed by the results of genetic testing.
What are the alternative names for Variegate Porphyria?
  • Variegate porphyria
  • PPOX deficiency
  • Porphyria variegate
  • Porphyria, South African type
  • Protoporphyrinogen oxidase deficiency
  • VP
Who are the top Variegate Porphyria Local Doctors?
Elite in Variegate Porphyria
Elite in Variegate Porphyria
Beersheba, D, IL 

Yonatan Edel practices in Beersheba, Israel. Mr. Edel and is rated as an Elite expert by MediFind in the treatment of Variegate Porphyria. His top areas of expertise are Variegate Porphyria, Hereditary Coproporphyria, Porphyria, and Acute Intermittent Porphyria.

Elite in Variegate Porphyria
Elite in Variegate Porphyria
London, ENG, GB 

Penelope Stein practices in London, United Kingdom. Ms. Stein and is rated as an Elite expert by MediFind in the treatment of Variegate Porphyria. Her top areas of expertise are Acute Intermittent Porphyria, Porphyria, Hereditary Coproporphyria, and Acute Hepatic Porphyria (AHP).

 
 
 
 
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Elite in Variegate Porphyria
Elite in Variegate Porphyria
Prague, PR, CZ 

Pavel Martasek practices in Prague, Czech Republic. Mr. Martasek and is rated as an Elite expert by MediFind in the treatment of Variegate Porphyria. His top areas of expertise are Variegate Porphyria, Porphyria, Acute Hepatic Porphyria (AHP), and Acute Intermittent Porphyria.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center