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Related Experiment Videos

Phenylketonuria screening with a fluorometric microplate assay

N Lubenow1, F Diepenbrock, H Schickling

  • 1Staatliches Medizinaluntersuchungsamt Hannover (Public Health Laboratory Hanover), Germany.

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

A new fluorometric assay accurately measures phenylalanine in dried blood spots for neonatal screening of phenylketonuria (PKU). This method offers reliable results, replacing the Guthrie test in routine programs.

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Area of Science:

  • Biochemistry
  • Clinical Chemistry
  • Neonatal Screening

Background:

  • Phenylketonuria (PKU) is a genetic disorder requiring early detection for effective management.
  • Neonatal screening programs are crucial for identifying infants with PKU.
  • Traditional screening methods may have limitations that newer assays aim to overcome.

Purpose of the Study:

  • To evaluate and adapt a fluorometric assay for phenylketonuria (PKU) screening in neonatal programs.
  • To quantitatively determine phenylalanine concentrations in dried blood spots.
  • To compare the performance of the fluorometric assay with the established Guthrie test.

Main Methods:

  • A fluorometric assay was developed and optimized for microtitre plates.
  • Phenylalanine concentrations were measured in dried blood spots on filter paper.

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  • Assay performance was assessed for linearity, precision, accuracy, and interference; comparison with Guthrie test on 7381 samples.

    • Main Results:

    • The fluorometric assay demonstrated a linear calibration curve with good slope, precision, and accuracy.
    • Minimal interference was observed from other amino acids and antibiotics, with slight interference from leucine only at elevated levels.
    • Results from the fluorometric assay correlated well with serum phenylalanine levels in PKU patients and showed no significant difference compared to the Guthrie test in a large newborn cohort.

    Conclusions:

    • The fluorometric assay is a reliable and accurate method for quantitative phenylalanine determination in dried blood spots.
    • The assay is suitable for neonatal screening programs, offering high throughput and minimal false negatives.
    • The fluorometric method successfully replaced the Guthrie test in routine PKU screening and follow-up.