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Related Experiment Videos

Acute intermittent porphyria: diagnostic conundrums

W S Wassif1, A C Deacon, Y Floderus

  • 1Department of Clinical Biochemistry, King's College School of Medicine and Dentistry, London, UK.

European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies
|December 1, 1994
PubMed
Summary

Identifying gene carriers for acute intermittent porphyria (AIP) is crucial. Assays for hydroxymethylbilane synthase (HMBS) enzyme activity in erythrocytes are effective for diagnosing AIP and identifying at-risk family members.

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Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Diagnostics

Background:

  • Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis.
  • Defects in the hydroxymethylbilane synthase (HMBS) gene on chromosome 11 cause AIP.
  • Identifying gene carriers is vital due to the risk of life-threatening neurogenic attacks.

Purpose of the Study:

  • To evaluate diagnostic methods for identifying carriers of acute intermittent porphyria.
  • To compare the efficacy of different assays for measuring erythrocyte hydroxymethylbilane synthase (HMBS) activity and protein levels.

Main Methods:

  • Assessed erythrocyte HMBS activity in 46 family members using High-Performance Liquid Chromatography (HPLC) and fluorimetric assays.
  • Determined HMBS immunoreactivity via a sandwich-type ELISA.

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  • Correlated enzyme activity and protein concentration using statistical analysis.

    • Main Results:

    • Significant correlations were found between HPLC/fluorimetric HMBS activity and enzyme protein concentration (r=0.85, p<0.001 and r=0.80, p<0.001).
    • ELISA was useful in excluding AIP in a patient with ambiguous enzyme activity results.
    • HPLC and fluorimetric assays demonstrated comparable diagnostic performance with minimal overlap zones.

    Conclusions:

    • Erythrocyte HMBS activity assays (HPLC and fluorimetry) are reliable for diagnosing acute intermittent porphyria.
    • ELISA for HMBS protein can aid in diagnosing AIP, especially in ambiguous cases.
    • Early identification of AIP gene carriers through enzyme assays is critical for preventative management.