Porphyria

A Lancet review by:

Inherited Porphyria are a group of metabolic diseases 8 of heme biosynthesis. They are characterized by symptoms of acute Neurovisceral, skin lesions, or both.

Each Porphyria caused by the abnormal function of separate enzyme step, resulting in an accumulation of specific heme precursors:

-7 Porphyria are the result of a partial enzyme deficiency
The mechanism of function is there in a new Porphyria increase

Porphyria acute severe attacks of acute abdominal pain, nausea, constipation, confusion and seizures - present and could threaten his life.

Porphyria Cutanea with painful photosensitivity, fragility of the skin and bubbles.

Porphyria are still underdiagnosed. Projection of the families to identify presymptomatic carriers and it is important to prevent the shedding.

References:
Porphyria. The Lancet, volume 375, pass is 9718, pages 924-937, 13 March 2010.
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Ditulis oleh: Unknown - Friday, June 13, 2014

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