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Porphyria is a general term for several genetic conditions that result from a lack of specific chemicals involved in the production of a chemical called heme. Heme is a chemical found in bone marrow and blood, and carries oxygen. It is also found in the liver. Porphyria disorders are genetic, and so they can move from one country to another through natural human migration. There is no vector or infectious component.

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Is there anyone that had porphyria?

First of all you must have a family history with porphyria; secondly the type of porphyria in your family must be definitely established as well as the mutation in your family. The porphyrias are a group of diseases (disorders) caused by the over-production of porphyrins, as a result of an inherited metabolic defect. In most cases the defect is genetic, except with one form porphyria cutanea tarda, that is however usually not genetic, but is acquired as a result of certain forms of liver dysfunction.A patient with porphyria have two major symptoms;the acute attack ( severe abdominal pain, nausea, vomiting, constipation, and pain in the back and limbs);and photosensitivity (due to sun-exposed areas, a skin disease develops with blisters and sores, particularly on the face and backs of the hands, forming scars, and healing takes longer than normal.Testing is very problematic and depends on the nature of your symptoms that you experience as well as in what country you live.It must be tested at a PORPHYRIA LABORATORY who are able to perform the complete range of tests necessary as incomplete results may be misleading in giving false-negative results. You have to submit a urine sample and a blood sample at a reputable porphyria laboratory for the following tests;Urine ALA and PBG measurement (this helps to exclude acute intermittent porphyria, and variegate porphyria in the acute attack).Urine porphyrin screening, followed by chromatographic quantitation if positive, to estimate the activity of acute intermittent porphyria and variegate porphyria, and to confirm porphyria cutanea tarda.Plasma fluorescence scan (this helps to exclude several porphyrias, including variegate porphyria and porphyria cutanea tarda).Erythrocyte fluorescence (this helps to exclude erythropoietic protoporphyria and congenital erythropoietic porphyria).DNA testing for the R59W mutation. (this is VP - Variegate Porphyria - South African mutation)If your results are negative, then your symptoms are not due to porphyria, and it is therefore highly unlikely that you in fact have porphyria. Your doctor must in any event help you to find another cause for your symptoms. (Source: Porphyria UCT SA)


Did count Dracula suffer from porphyria?

There is no definitive evidence to suggest that Count Dracula, a fictional character created by Bram Stoker, suffered from porphyria. The link between porphyria and vampire lore is largely a modern interpretation. Stoker's inspiration for Dracula came from various sources, and there is no direct reference to porphyria in the novel.


What is porphyria?

Porphyria is a metabolic disorder and is genetic. It is one of the acute porphyrias and cutaneous porphyria are also found within this condition. The gene mutation R59W carried within my family; the common defect responsible for Variegate Porphyria in South Africa, results in a faulty enzyme (protoporphyrinogen oxidase PPOX) that cannot handle the normal metabolism of porphyrins, which results in overproduction in the blood and urine.


How do you pronounce porphyria?

Porphyria (Poor-fear-E-ah) Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.


What is the incidence of ALA dehydratase deficiency porphyria?

ALA dehydratase deficiency porphyria is an extremely rare form of porphyria. It is an autosomal recessive disorder with only a few cases reported worldwide. Symptoms can vary widely among affected individuals.

Related Questions

The abandonment of one country's leader in favor of another?

People are saying that it is Porphyria but i hope it is. hope this helps! :D


What is acute intermittent porphyria also called?

Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.


Is porphyria dominant or recessive?

both depending on the type of porphyria


When was Porphyria's Lover created?

Porphyria's Lover was created in 1836.


How does the speaker kills porphyria?

If by this question you're making reference to the Robert Browning poem "Porphyria's Lover" the poem's speaker strangled Porphyria with her hair. If you are actually asking about a speech someone has perhaps made on the disease called porphyria, I have no idea as to how one might cure oneself of it and thus tender instead my sincere apologies.


What actors and actresses appeared in Porphyria - 2013?

The cast of Porphyria - 2013 includes: Jasmin Egner as Porphyria Simon McCay as Thomas


What is congenital erythropoietic porphyria also called?

CEP is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.


Is there anyone that had porphyria?

First of all you must have a family history with porphyria; secondly the type of porphyria in your family must be definitely established as well as the mutation in your family. The porphyrias are a group of diseases (disorders) caused by the over-production of porphyrins, as a result of an inherited metabolic defect. In most cases the defect is genetic, except with one form porphyria cutanea tarda, that is however usually not genetic, but is acquired as a result of certain forms of liver dysfunction.A patient with porphyria have two major symptoms;the acute attack ( severe abdominal pain, nausea, vomiting, constipation, and pain in the back and limbs);and photosensitivity (due to sun-exposed areas, a skin disease develops with blisters and sores, particularly on the face and backs of the hands, forming scars, and healing takes longer than normal.Testing is very problematic and depends on the nature of your symptoms that you experience as well as in what country you live.It must be tested at a PORPHYRIA LABORATORY who are able to perform the complete range of tests necessary as incomplete results may be misleading in giving false-negative results. You have to submit a urine sample and a blood sample at a reputable porphyria laboratory for the following tests;Urine ALA and PBG measurement (this helps to exclude acute intermittent porphyria, and variegate porphyria in the acute attack).Urine porphyrin screening, followed by chromatographic quantitation if positive, to estimate the activity of acute intermittent porphyria and variegate porphyria, and to confirm porphyria cutanea tarda.Plasma fluorescence scan (this helps to exclude several porphyrias, including variegate porphyria and porphyria cutanea tarda).Erythrocyte fluorescence (this helps to exclude erythropoietic protoporphyria and congenital erythropoietic porphyria).DNA testing for the R59W mutation. (this is VP - Variegate Porphyria - South African mutation)If your results are negative, then your symptoms are not due to porphyria, and it is therefore highly unlikely that you in fact have porphyria. Your doctor must in any event help you to find another cause for your symptoms. (Source: Porphyria UCT SA)


Did count Dracula suffer from porphyria?

There is no definitive evidence to suggest that Count Dracula, a fictional character created by Bram Stoker, suffered from porphyria. The link between porphyria and vampire lore is largely a modern interpretation. Stoker's inspiration for Dracula came from various sources, and there is no direct reference to porphyria in the novel.


Do you pay tax to two countries if you're EU citizens from one country to another EU country?

If you are EU citizen from one country to another EU country, you pay tax, which vary from one EU country to another.


What the movement of people from one country to settle in another country is called?

The movement of people from one country to settle in another country is called immigration.


What happens when a immigrant enters a country?

An immigrant is a person who comes from one country into another. An emmigrant leaves one country for another.