Plumboporphyria (ALAD deficiency) in a lead worker: a scenario for potential diagnostic confusion

Br J Ind Med. 1993 Dec;50(12):1119-21. doi: 10.1136/oem.50.12.1119.

Abstract

A lead worker developed bilateral wrist drop. At first this seemed to be a lead neuropathy but all his screening tests for blood and urine toxicity had been within the accepted safety limit during employment. Detailed investigation showed that he had plumboporphyria (ALAD deficiency) which had been symptom free until he was exposed to lead. Details of his porphyrin metabolism are presented.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Humans
  • Lead Poisoning / diagnosis*
  • Male
  • Motor Neuron Disease / etiology
  • Occupational Diseases / diagnosis*
  • Porphobilinogen Synthase / deficiency*
  • Porphyrias / diagnosis
  • Porphyrins / metabolism

Substances

  • Porphyrins
  • Porphobilinogen Synthase