Laboratory diagnosis of porphyria

Elena Di Pierro, Michele De Canio, Rosa Mercadante, Maria Savino, Francesca Granata, Dario Tavazzi, Anna Maria Nicolli, Andrea Trevisan, Stefano Marchini, Silvia Fustinoni

Research output: Contribution to journalReview articlepeer-review

Abstract

Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying presymptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.

Original languageEnglish
Article number1343
JournalDiagnostics
Volume11
Issue number8
DOIs
Publication statusPublished - Aug 2021

Keywords

  • ALA (5-aminolevulinic acid)
  • Diagnosis
  • EPNET (European Porphyria Network)
  • HPLC (high-pressure liquid chromatography)
  • MLPA (Multiplex Ligation-Dependent Probe Amplification)
  • NGS (Next-Generation Sequencing)
  • PBG (porphobilinogen)
  • Porphyria
  • Porphyrins

ASJC Scopus subject areas

  • Clinical Biochemistry

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