Porphyric neuropathy

Muscle Nerve. 2021 Aug;64(2):140-152. doi: 10.1002/mus.27232. Epub 2021 Mar 31.


Acute hepatic porphyrias are inherited metabolic disorders that may present with polyneuropathy, which if not diagnosed early can lead to quadriparesis, respiratory weakness, and death. Porphyric neuropathy is an acute to subacute motor predominant axonal neuropathy with a predilection for the upper extremities and usually preceded by a predominantly parasympathetic autonomic neuropathy. The rapid progression and associated dysautonomia mimic Guillain-Barré syndrome but are distinguished by the absence of cerebrospinal fluid albuminocytologic dissociation, progression beyond 4 wk, and associated abdominal pain. Spot urine test to assess the porphyrin precursors delta-aminolevulinic acid and porphobilinogen can provide a timely diagnosis during an acute attack. Timely treatment with intravenous heme, carbohydrate loading, and avoidance of porphyrinogenic medications can prevent further neurological morbidity and mortality.

Keywords: acute hepatic porphyria; acute motor neuropathy; autonomic neuropathy; axonal; peripheral neuropathy; porphyric neuropathy; radial nerve.

Publication types

  • Review

MeSH terms

  • Aminolevulinic Acid / metabolism
  • Guillain-Barre Syndrome / mortality
  • Guillain-Barre Syndrome / pathology
  • Humans
  • Peripheral Nervous System Diseases / diagnosis
  • Peripheral Nervous System Diseases / mortality*
  • Peripheral Nervous System Diseases / pathology*
  • Polyneuropathies* / mortality
  • Polyneuropathies* / pathology
  • Porphobilinogen Synthase / deficiency*
  • Porphyrias, Hepatic / mortality*
  • Porphyrias, Hepatic / pathology*
  • Radial Nerve / pathology


  • Aminolevulinic Acid
  • Porphobilinogen Synthase

Supplementary concepts

  • Porphyria, Acute Hepatic