Open AccessSEVEN STEPS TO DIAGNOSE DELTA-AMINOLEVULINIC ACID DEFICIENCY PORPHYRIA
Author(s) -
Adriana Grigore,
Vlad Eugen Tiu,
Elena Terecoasa,
Lavinia 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 , differential diagnosis , dehydratase , enzyme deficiency , porphobilinogen , porphobilinogen synthase , dermatology , gastroenterology , intensive care medicine , pediatrics , 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.