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A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Year introduced: 2005 (1963)

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Tree Number(s): C16.320.565.708, C17.800.849.617, C18.452.648.708, C18.452.811, C18.452.880.617

MeSH Unique ID: D011164

Entry Terms:

  • Porphyrin Disorder
  • Disorder, Porphyrin
  • Disorders, Porphyrin
  • Porphyrin Disorders
  • Porphyria

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