Porphyrin concentrations in health and disease: on the molecular definition of porphyria and COVID-19

Abstract

Diagnosing porphyria presents challenges due to its nonspecific clinical manifestations, necessitating diverse biochemical analyses. This study introduces an enzymatic approach aimed at elucidating the underlying molecular mechanisms of porphyria and identifying specific intermediates responsible for enzyme inhibition. Through metabolite screening and biophysical experiments, it provides insights into enzyme inhibition patterns crucial for diagnosing and managing acute attacks. Furthermore, the study explores abnormal porphyrin profiles in COVID-19 patients, indicating potential disruptions in the heme pathway and offering valuable insights into hematological disorders associated with severe COVID-19.