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Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening

Ozlem Unal1, Burcu Oztürk-Hişmi, Turgay Coşkun

  • 1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. unalozlem@gmail.com

The Turkish Journal of Pediatrics
|May 23, 2013
PubMed

Insights

Limited newborn screening programs can still detect inborn errors of metabolism (IEMs). Early detection of IEMs is possible through careful physical exams and cost-effective screening techniques, even in resource-limited settings.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Neonatal screening programs are often limited in scope in many countries.
  • Early detection of inborn errors of metabolism (IEMs) is crucial for preventing severe health outcomes.

Purpose of the Study:

  • To highlight the opportunity for early detection of IEMs in settings with limited newborn screening.
  • To identify IEMs beyond hyperphenylalaninemia in referred neonates.

Main Methods:

  • Physical examination of neonates referred for hyperphenylalaninemia.
  • Blood sample analysis using high-performance liquid chromatography (HPLC) for phenylalanine.
  • Amino acid analysis to measure blood amino acid concentrations.

Main Results:

  • Seven patients initially referred for hyperphenylalaninemia were diagnosed with other IEMs.
  • Demonstrated the feasibility of identifying diverse IEMs through targeted investigations.

Conclusions:

  • Careful physical examination and low-cost screening methods can facilitate early detection of missed IEMs.
  • Experienced referring centers can play a vital role in expanding early IEM detection.
  • This approach offers a valuable strategy for improving newborn health in resource-limited regions.

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