Abstract

Porphyria - when to think about how to clarify and treat? Abstract. Porphyrias are a group of metabolic disorders that are mostly hereditary. They manifest either as abdominal colic or as skin changes at light-exposed areas. During the symptomatic phase the diagnosis of porphyria can be made by cost-effective screening tests. If the screening gives a positive result, further testing is required to determine the exact type of porphyria and to establish the best therapeutic option for the patient in a specialized porphyria center.

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