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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

Tania Vasquez-Loarte1, John D Thompson2, J Lawrence Merritt3

  • 1Public Health Genetics, University of Washington, Seattle, WA 98195, USA.

International Journal of Neonatal Screening
|October 30, 2020
PubMed

Insights

Newborn screening for proximal urea cycle disorders (PUCDs) could improve outcomes. Early detection and treatment of PUCDs, like ornithine transcarbamylase deficiency, may prevent intellectual disability and death.

Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Proximal urea cycle disorders (PUCDs) can lead to severe intellectual disability and death.
  • Early detection through newborn screening (NBS) offers potential benefits for managing PUCDs.
  • Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficiency (CPS1D) are examples of PUCDs.

Purpose of the Study:

  • To evaluate the evidence supporting the inclusion of PUCDs in newborn screening panels.
  • To assess PUCDs based on prevention potential, medical, diagnostic, treatment, and public health rationales.

Main Methods:

  • A literature review was conducted using PubMed with MESH terms for OTCD, CPS1D, and NAGSD.
  • A systematic review was performed adhering to NBS inclusion criteria.
  • 31 articles were reviewed to synthesize current evidence.

Main Results:

  • Molecular and biochemical diagnostic methods are available for PUCDs.
  • Early treatment of PUCDs can potentially mitigate developmental delay and mortality.
  • Tandem mass spectrometry is a viable NBS method, though current biomarkers like citrulline and glutamine require improved specificity.

Conclusions:

  • Existing medical treatments for PUCDs align with NBS inclusion criteria.
  • Enhancing NBS algorithms for sensitivity and specificity is crucial for earlier diagnosis and improved outcomes.
  • Expanding NBS for PUCDs holds promise for reducing long-term disability and mortality.

Keywords:
N-acetyl glutamate synthetase deficiencyNBScarbamoyl phosphate synthetase 1 deficiencyneonatal screeningnewborn screeningornithine transcarbamylase deficiencyproximal urea cycle disorderspublic health

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