Porphyric neuropathy

Muscle Nerve. 2004 Oct;30(4):410-22. doi: 10.1002/mus.20137.

Abstract

The hepatic porphyrias are a group of rare metabolic disorders characterized by enzymatic defects in the biosynthesis of heme, a metalloporphyrin that is the principal product of porphyrin metabolism. The hepatic porphyrias are genetically transmitted as autosomal-dominant disorders with variable expression that produce a particularly severe form of neuropathy. Most medical students readily recognize acute attacks of porphyria when the classic triad of abdominal pain, psychosis, and neuropathy is present. Yet, porphyric neuropathy is a source of confusion in practice, and patients with porphyria rarely receive the correct diagnosis early in the course of the illness. Porphyric neuropathy is manifest by symptoms, signs, and cerebrospinal fluid abnormalities resembling acute Guillain-Barré syndrome. However, accompanying psychological features, a proximal predilection of asymmetric weakness, and electrodiagnostic findings indicative of an axonal polyradiculopathy or neuronopathy all suggest the diagnosis of porphyria. Confirmation of the diagnosis depends on use of appropriate laboratory studies. The underlying pathophysiology of porphyric neuropathy has not been established, but it may be related to direct neurotoxicity of elevated levels of delta-aminolevulinic acid. The severity of the neuropathy and the availability of potential treatments, including avoidance of provocative factors, make identification important.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Animals
  • Electrophysiology
  • History, 19th Century
  • History, 20th Century
  • Humans
  • Peripheral Nervous System Diseases / classification
  • Peripheral Nervous System Diseases / etiology*
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology*
  • Peripheral Nervous System Diseases / therapy*
  • Porphyrias, Hepatic / classification
  • Porphyrias, Hepatic / complications*
  • Porphyrias, Hepatic / genetics
  • Porphyrias, Hepatic / pathology*
  • Porphyrias, Hepatic / therapy*
  • Porphyrins / metabolism

Substances

  • Porphyrins