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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

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Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual

Hilary Vallance1, Graham Sinclair1, Bojana Rakic1

  • 1Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia.

Paediatrics & Child Health
|October 22, 2021
PubMed

Insights

Expanding metabolic testing to community pediatricians did not increase diagnoses of inborn errors of metabolism (IEM). A revised test panel is recommended for children with global developmental delay, intellectual disability, or red flag symptoms.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Global developmental delay and intellectual disability (GDD/ID) affect 3% of children.
  • Inborn errors of metabolism (IEM) are rare causes of GDD/ID, but early diagnosis improves outcomes.
  • A first-tier metabolic test panel was implemented for community pediatricians in British Columbia in 2012.

Purpose of the Study:

  • To evaluate the diagnostic yield of first-tier metabolic testing for IEM.
  • To compare testing results before and after implementation in community pediatric settings.

Main Methods:

  • Retrospective review of metabolic testing data.
  • Analysis of diagnostic yield from 2006-2012 (pre-implementation) and 2013-2019 (post-implementation).

Main Results:

  • Diagnostic yield for IEM was 0.91% pre-implementation and 0.25% post-implementation.
  • Creatine metabolism disorders and organic acidurias were most common.
  • No diagnoses were made using acylcarnitine, lactate, or ammonia tests.
  • Most diagnosed patients (20/24) had neurological or red flag signs; four boys had X-linked creatine transporter defect with speech-language delay.

Conclusions:

  • Expanding first-tier metabolic testing to community pediatricians did not increase IEM diagnoses.
  • A modified test panel is suggested for patients with GDD/ID and red flag signs.
  • Urine creatine testing should be considered for boys with speech-language delay to detect creatine transporter defects.

Keywords:
Diagnostic yieldGlobal developmental delayInborn errors of metabolismIntellectual disability

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