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.
Yes, congenital erythropoeitic porphyria (CEP).
Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.
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.
This porphyria type is very rare as it involves the inheritance of 2 recessive defective genes from each parent.
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.
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
both depending on the type of porphyria
Porphyria's Lover was created in 1836.
The cast of Porphyria - 2013 includes: Jasmin Egner as Porphyria Simon McCay as Thomas
it can be, if the porphyria is ACQUIRED, rather than inherited.
Yes, congenital erythropoeitic porphyria (CEP).
CEP is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.
Porphyria
Porphyria's lover desires to possess Porphyria completely, to have her love him and be with him forever. He wants her to be devoted solely to him and not to anyone else, even if it means resorting to extreme measures to ensure her loyalty.
Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.
Urine test, blood plasma tests, biochemical tests to determine type of porphyria, enzyme test.
Paraerythropoietic porphyria does not exist in standard medical textbooks on porphyria. "Para" means beside. Apparently, this name should indicate that is something like erythopoietic porphyria. Erythropoietic porphyria is in most cases a very severe disease starting in neonates, in most instances. A disease named erythropoietic protoporphyria is less severe, but begins also in childhood. The main symptom of both diseases is intolerance of sunlight that induces pain and/or blisters in sun-exposed skin.