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Related Experiment Videos

Neonatal screening for citrullinaemia.

Johannes Sander1, Nils Janzen, Stefanie Sander

  • 1Screeninglabor, 30430 Hannover, Germany. j.sander@metabscreen.de

European Journal of Pediatrics
|April 10, 2003
PubMed
Summary

Neonatal screening for citrullinaemia using tandem mass spectrometry identified 15 newborns with persistent hypercitrullinaemia. Early detection enabled timely treatment for some, but logistics may delay results in severe cases.

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Area of Science:

  • Biochemistry
  • Neonatal Medicine
  • Metabolic Disorders

Background:

  • Neonatal screening programs aim to detect treatable metabolic disorders early.
  • Citrullinaemia is a urea cycle disorder that can cause severe hyperammonaemia if untreated.
  • Tandem mass spectrometry offers a sensitive method for analyzing amino acid metabolites like citrulline.

Purpose of the Study:

  • To evaluate the feasibility and effectiveness of neonatal screening for citrullinaemia using tandem mass spectrometry.
  • To determine the prevalence of hypercitrullinaemia in a large newborn population.
  • To assess the impact of early citrullinaemia diagnosis on patient outcomes.

Main Methods:

  • Analysis of 610,000 blood samples for citrulline levels over 40 months.

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  • Utilized tandem mass spectrometry for high-throughput analysis.
  • Defined persistent hypercitrullinaemia as Cit >1.5 mg/dl (85.5 micro mol/l).

    • Main Results:

    • Identified 15 newborns with persistent hypercitrullinaemia.
    • Diagnosed 4 cases of classical neonatal citrullinaemia and 8 with asymptomatic hypercitrullinaemia.
    • Identified argininosuccinate lyase deficiency in 3 cases with moderately elevated citrulline.
    • Two cases were temporary mild elevations considered false-positives.
    • Early treatment was initiated for 2 citrullinaemia cases, potentially preventing decompensation.

    Conclusions:

    • Neonatal screening for citrullinaemia is more complex than anticipated.
    • Current logistics may lead to delayed diagnosis in severe cases.
    • Early detection is crucial for managing citrullinaemia and preventing severe outcomes.