Porphyria

...cted which causes abnormality in the Protoporphyrin production and storage There are several forms of this disease. To name a few, there is the Acute Intermittent Porphyria (AIP). This particular form usually shows up after a person reaches puberty and is more common for women then men. The reason being is the hormonal changes in women. Due to the enzyme that is effected in this for, the skin is not oversensitive. Other symptoms include acute abdominal, legs and arm pains. Congenital Erythropoitec Porphyria (CEP) is also very rare. Symptoms includes extreme photosensitivity, abnormal hair growth, teeth and bone abnormalities and shortened life expectancy. Porphyria Cutanea Tarda (PCT) is the most common form. This type affects the liver and possible cause liver cancer. Photosensitivity, thickening and darkening of the skin and excessive hair growth is usually associated with this disease. The idea of vampires probably came from the two porphyria types CEP and PCT. The other forms are rare but share some same symptoms and deficiencies The deficiency also causes mutations in gene that get passed down through heredity. The chromosome 18q is the particular chromosome that causes the problems (Alpine, C. et al, 2001). Not all carriers of the mutated chromosome 18q show signs of porphyria. There are only about 10% of those who carry the mutated gene that actually show signs of this disease (Schneider-Yin, et al. 2001). The cases of porphyria are about 1 in 25,000 people. Most who carry the gene live symptomatic free lives depending on if the gene is dominant ar...

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