Abstract:The porphyria's are a rare group of metabolic disorders produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the heme group, which results in an accumulation of photosensitive by products, such as uroporphyrinogen, which leads to the fragility and blistering of sun-exposed skin. Porphyria can manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Prevalence of porphyria's varies, from 1 in 500 to 1 in 50,000 people world… Show more
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