Porphyria and its neurologic manifestations

Jennifer A. Tracy, P. James B. Dyck

Research output: Chapter in Book/Report/Conference proceedingChapter

21 Scopus citations

Abstract

Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Clinical confirmation can be made through evaluation of urine porphyrins during an exacerbation of disease. While hematin is helpful for acute treatment, long-term effective management requires avoidance of overstimulation of the cytochrome P450 pathway, as well as other risk factor control.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages839-849
Number of pages11
DOIs
StatePublished - 2014

Publication series

NameHandbook of Clinical Neurology
Volume120
ISSN (Print)0072-9752

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Keywords

  • Acute intermittent porphyria
  • Autonomic neuropathy
  • Encephalopathy
  • Hematin
  • Hereditary coproporphyria
  • Peripheral neuropathy
  • Porphyria
  • Variegate porphyria

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Tracy, J. A., & Dyck, P. J. B. (2014). Porphyria and its neurologic manifestations. In Handbook of Clinical Neurology (pp. 839-849). (Handbook of Clinical Neurology; Vol. 120). Elsevier B.V.. https://doi.org/10.1016/B978-0-7020-4087-0.00056-5