Keywords

heme, heredity, inherited metabolic disorders, porphyria

 

Authors

  1. Gasson, Tracy MSN, APRN, OCN
  2. Klein, Kathleen MSN, APRN, CCRN

Abstract

Abstract: Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. Most of these conditions are inherited; however, some are believed to be acquired through environmental exposures. Patients with porphyrias often present with a wide range of clinical symptoms, making it difficult to diagnose. Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis.