Inherited Porphyrias

Robert J. Desnick, Manisha Balwani, Karl E. Anderson

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

The porphyrias are a group of inherited metabolic diseases, with each due to the deficient activity of a specific enzyme in the heme biosynthetic pathway. These are inherited as autosomal dominant, autosomal recessive, or X-linked traits, with the exception of Porphyria Cutanea Tarda, which is usually sporadic. The most common manifestations are related to the accumulation of porphyrin precursors or porphyrins, resulting in either acute neurological attacks, or cutaneous photosensitivity, or both. Multiple mutations have been identified in the genes, encoding the specific enzyme that is deficient in each of the porphyrias. Specific diagnosis criteria and treatment modalities are available for the porphyrias.

Original languageEnglish (US)
Title of host publicationEmery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Subtitle of host publicationMetabolic Disorders
PublisherElsevier
Pages373-411
Number of pages39
ISBN (Electronic)9780128125359
DOIs
StatePublished - Jan 1 2020

Keywords

  • Acute attacks
  • Acute hepatic porphyrias
  • DNA diagnostics
  • Erythropoietic protoporphyrias
  • Heme biosynthesis
  • Phototoxicity
  • Treatment

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology

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