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SEVEN STEPS TO DIAGNOSE DELTA-AMINOLEVULINIC ACID DEFICIENCY PORPHYRIA

, Adriana Grigore, Vlad Tiu, , Elena Terecoasa, · Romanian Journal of Neurology · 2017

Delta-aminolevulinic acid dehydratase porphyria (ADP) is a rare cause of acute polyneuropathy. It should be part of the differential diagnosis in every patient presenting with polyneuropathy and elevated liver enzymes. Genetic, acquired and environmental factors can play a role in the clinical manifestations and there are several steps in reaching the diagnosis. We present the case of a male patient with at least two possible causes for his symptoms, the diagnostic process and the outcome.

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