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Congenital Phorphyria

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Year 2 (Inborn Errors of Metabolism) Flashcards on Congenital Phorphyria, created by gina_evans0312 on 05/04/2014.
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Flashcards by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312 over 10 years ago
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Resource summary

Question Answer
Family of Diseases That prevent Haeme production
Potential Symptoms Skin blisters in sunlight, excessive hair on face and hands
Most Common Symptoms Neurological damage, bleeding and receeding gums (appear fanglike)
Source of Disease Irod gene mutation --> dec. Irod enzyme leads to inc porphyrin in skin
Treatment Blood transfusion
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