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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.
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)
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.
Is porphyria an autoimmune disease?
Porphyria is not an autoimmune disease. Although, signs and symptoms of the disease mimic lupus, which is an autoimmune disease. Autoimmune diseases are based on the immune system not being able to distinguish between its own cells and cells that are foreign in nature. On the other hand, porphyria is based on a malformation of heme precursors, called porphyrins. The name porphyria comes from Greek porphyra, which means purple pigment, and references the purple color of the urine seen in some porphyria cases.
What disease did Count Dracula suffer from?
porphyria
What was count Dracula real disease?
porphyria
Did count Dracula suffer from dermatitis?
no.
Who is the count's coachman Dracula?
The Count's coachman is Dracula the Count himself
What chromosome does porphyria affect?
you will suffer enormous pain and die eventually
What characters were in the book count Dracula?
Dracula
Who knew Count Dracula best?
Count Dracula or Vlad Dracula ,I think people that surrounded him in that time,people he punished..
Which count sucks your blood?
The count that is known for wanting to suck your blood is Count Dracula. The most famous Count Dracula is Bela Lugosi.
How many hours does it take you to count to 1000000000?
Cout Dracula is something tha he owns well i know him it is/he is been here forever backwords it is a well a government thing that Cout Dracula owns Count Dracula,Count Dracula own Count Dracula own to,$999999999.00
When was Count Dracula's Great Love created?
Count Dracula's Great Love was created in 1974.
Who said To dieto be really dead that must be glorious?
It is from the 1931 film, DRACULA, and it is said by Bela Lugosi as Count Dracula during the theater scene when Dracula meets Mina & Lucy.: Count Dracula: To die, to be really dead, that must be glorious! : Mina: Why, Count Dracula! : Count Dracula: There are far worse things awaiting man than death.
What is the duration of Count Dracula's Great Love?
The duration of Count Dracula's Great Love is 1.42 hours.
