Porphyria Cutanea Tarda

Saturday, April 9th, 2011

Porphyria Cutanea Tarda is the common porphyria form, resulting in skin blistering, caused by sunlight. The disease happens around the world and in the only type of porphyria that is not hereditary. A hepatic porphyria happens when one liver’s enzyme called uroporphyrinogen decarboxylase, which is needed for heme synthesis, becomes inactivated. Porphyria Cutanea Tarda may […]

Niemann-Pick Disease

Tuesday, April 5th, 2011

Niemann-Pick Disease is a medical hereditary disorder, where a specific enzyme deficiency causes a product of fat sphingomyelin metabolism accumulation. The gene responsible for this disorder is recessive, which means that children with Niemann-Pick disease have inherited an abnormal gene from both parents. The disorder has 5 or more forms depending on the enzyme deficiency […]

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