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Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias

Preferred term

Porphyrias  

Type

  • Topical Descriptor

Broader concept

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Related concepts

Entry terms

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

Note

  • general or unspecified: prefer specifics

Scope note

  • 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.

History note

  • 2005 (1963)

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URI

http://www.yso.fi/onto/mesh/D011164

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