Porphyria is a Disease in which the Body does not Produce Porphyrins

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Porphyria is a disease dealing with an abnormality of the metabolic processes in the body. In particular, there is an insufficiency of the body to process porphyrins which are a metal-containing pigment. However, porphyria is actually a group of diseases with the commonality of the accumulation of porphyrins or porphyrin precursors. Porphyria is derived from the Greek word porphyrous meaning reddish-purple. Urine from patients display a reddish-purple hue due to the presence of excess amounts of porphyrins. This is a rare disease with the most common type porphyria cutanae tarda (PCT) statistically to occur one in ten thousand individuals. Porphyria disease is generally inherited genetically, but some environmental factors can enhance or trigger porphyria symptoms.

All diseases grouped under porphyria are disorders of heme biosynthesis, the deficiency of one of the enzymes which are necessary for the production of heme. Heme includes hemoglobin, myoglobin, cytochromes, and other heme-containing proteins. These are found in all organs within the body, and they are most active in the liver and bone marrow. Due to this enzyme deficiency, the result is the accumulation of certain pathway intermediaries. Porphyria diseases can be categorized based on where the primary site of overproduction occurs. If the accumulation of porphyrins occurs in the liver then this is considered to be hepatic, and if the accumulation occurs in bone marrow then it is categorized as erythropoietic.

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