Porphyria Essay

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Overview I. Introduction II. Causes III. Symptoms IV. Diagnosis V. Prognosis VI. Classification A. Acute Intermittent Porphyria (AIP) B. Variegate Porphyria (VP) C. Hereditary Coproporphyria (HCP) D. Protoporphyria (EEP) E. Porphyria Cutanea Tarda (PCT) F. Congenital Erythropoietic Porphyria (CEP) G. ALA-D Porphyria (ADP) H. Hepatoerythropoietic Porphyria (HEP) VII. Vampire or Werewolf Misconception VIII. Conclusion IX. Picture Gallery X. Works Cited Introduction A very rare and vast genetic disorder, known as Porphyria, cannot be generalized to specific symptoms or diagnoses because it has at least eight different divisions which each show different clinical manifestations and therefore require different treatments. Porphyria is a group of eight diseases that have one thing in common which is that they all start when porphyrins or porphyrin precursors start to accumulate in the body which is not ordinary for these normal body chemicals. There is a deficiency of a specific enzyme in the precursors which actually determines the type of Porphyria. These enzymes are involved in the formation of "heme," a substance important to many body functions and found in largest amounts as hemoglobin in the bone marrow, red blood cells, and the liver. (Levin, 2007) Environmental factors, such as drugs, chemicals, diet, and sun exposure can, depending on the type of Porphyria, greatly influence the severity of symptoms. Porphyrin and Porphyria are derived from the Greek word porphyrus which means purple. According to the American Porphyria Society, “The inherited Porphyrias are either autosomal dominant or autosomal recessive and autosomal genes always occur in pairs, with one coming from each parent. Individuals with an autosomal dominant form of Porphyria have one abnormal gene paired with a normal one, and half of their offspring will inherit the

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