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Yes, congenital erythropoeitic porphyria (CEP).

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Is pyroluria connected to porphyria?

Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.


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.


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 is the incidence of ALA dehydratase deficiency porphyria?

This porphyria type is very rare as it involves the inheritance of 2 recessive defective genes from each parent.


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.