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Organic acids in the second morning urine in a healthy Swiss paediatric population

Olivier Boulat1, Marianne Gradwohl, Vera Matos

  • 1Central Clinical Chemistry Laboratory, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

Clinical Chemistry and Laboratory Medicine
|January 8, 2004
PubMed

Insights

Urinary organic acid levels in healthy children generally decrease with age. Neonatal kidney immaturity causes higher variability, impacting disorder diagnosis.

Area of Science:

  • Biochemistry
  • Clinical Chemistry
  • Pediatric Medicine

Background:

  • Organic acid analysis is crucial for diagnosing inherited metabolic disorders.
  • Establishing reference ranges in healthy populations is essential for accurate clinical interpretation.

Purpose of the Study:

  • To determine urinary organic acid concentrations in healthy Caucasian children across a wide age range.
  • To establish age- and creatinine-adjusted reference values for common organic acids.

Main Methods:

  • Gas chromatography-mass spectrometry (GC-MS) was employed for analysis.
  • Liquid-solid extraction and trimethylsilyl derivatization were performed prior to GC-MS.
  • 417 healthy Caucasian children aged 1 day to 17 years were included.

Main Results:

  • Most organic acid concentrations, adjusted for creatinine, decreased with increasing age.
  • Neonates exhibited greater variability in organic acid levels due to renal immaturity.
  • Gender differences were observed only for Krebs cycle intermediates in older children.

Conclusions:

  • Age-dependent reference ranges are critical for interpreting organic acid profiles in children.
  • Neonatal reference ranges require careful consideration due to physiological immaturity.
  • Limited sample sizes per age group necessitate cautious interpretation of diagnostic cutoffs.

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