Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation.

Academic Article


  • The authors identified a novel mutation of the porphobilinogen deaminase (PBG-D) gene in a patient with acute intermittent porphyria presenting with severe and bilateral axonal radial motor neuropathy. Electrophysiologic studies revealed prominent involvement of distal radial nerves in the setting of mild polyneuropathy. Analysis of the PBG-D gene revealed a single base-pair insertion (887insA) in exon 14.
  • Published In

  • Neurology  Journal
  • Keywords

  • Adult, Diagnosis, Differential, Female, Humans, Hydroxymethylbilane Synthase, Male, Mutation, Pedigree, Porphyrias, Radial Neuropathy, Statistics, Nonparametric
  • Author List

  • King PH; Petersen NE; Rakhra R; Schreiber WE
  • Start Page

  • 1118
  • End Page

  • 1121
  • Volume

  • 58
  • Issue

  • 7