SEVEN STEPS TO DIAGNOSE DELTA-AMINOLEVULINIC ACID DEFICIENCY PORPHYRIA | Zendy

Adriana Grigore | Zendy; Vlad Eugen Tiu | Zendy; Elena Terecoasă | Zendy; Laurent Tatu | Zendy; Ana Cobzaru | Zendy; Cristina Tiu | Zendy

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SEVEN STEPS TO DIAGNOSE DELTA-AMINOLEVULINIC ACID DEFICIENCY PORPHYRIA

Author(s) -

Adriana Grigore,

Vlad Eugen Tiu,

Elena Terecoasă,

Laurent Tatu,

Ana Cobzaru,

Cristina Tiu

Publication year - 2017

Publication title -

romanian journal of neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.111

H-Index - 4

eISSN - 2069-6094

pISSN - 1843-8148

DOI - 10.37897/rjn.2017.4.8

Subject(s) - porphyria , polyneuropathy , medicine , dehydratase , differential diagnosis , enzyme deficiency , porphobilinogen , porphobilinogen synthase , gastroenterology , dermatology , enzyme , pathology , biochemistry , biology

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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