Congenital Phorphyria

Beschreibung

Year 2 (Inborn Errors of Metabolism) Karteikarten am Congenital Phorphyria, erstellt von gina_evans0312 am 05/04/2014.
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Karteikarten von gina_evans0312, aktualisiert more than 1 year ago
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Zusammenfassung der Ressource

Frage Antworten
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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