Related Experiment Video
Updated: Mar 25, 2026
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population
Willemijn J van Rijt1, Geneviève D Koolhaas, Jolita Bekhof
1Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Insights
Inborn errors of metabolism (IEMs) can cause sudden infant death (SID). Expanded screening of metabolites and DNA can improve early detection and treatment for these treatable conditions.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Inborn errors of metabolism (IEMs) are a significant cause of sudden infant death (SID).
- Population-based neonatal bloodspot screening (NBS) programs identify many IEMs pre-symptomatically.
- Some IEMs are missed by NBS due to early onset, delayed testing, or incomplete screening panels.
Purpose of the Study:
- To systematically review IEMs associated with SID and Reye syndrome (RS).
- To assess the treatability of these IEMs.
- To determine their detectability using current neonatal bloodspot screening (NBS) technologies.
Main Methods:
- Comprehensive systematic literature review.
- Inclusion of Reye syndrome (RS) in the search strategy.
- Analysis of IEMs associated with sudden infant death (SID).
Main Results:
- Identified 43 IEMs linked to SID and/or RS.
- 26 IEMs can manifest in the neonatal period.
- Treatment is available for at least 32 IEMs, and 26 are detectable via acylcarnitine and amino acid analysis in dried bloodspots (DBS).
Conclusions:
- Advocating for expanded blood/urine metabolite analysis and DNA sequencing for sudden/unexpected deaths in infants.
- This approach enhances diagnostic yield for IEMs.
- Findings are crucial for clinicians and policymakers to improve NBS programs and early detection.
Background:
Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes.
Objectives And Methods:
This was a comprehensive systematic literature review to identify all IEMs associated with SID, including their treatability and detectability by NBS technologies. Reye syndrome (RS) was included in the search strategy because this condition can be considered a possible pre-stage of SID in a continuum of aggravating symptoms.
Results:
43 IEMs were identified that were associated with SID and/or RS. Of these, (1) 26 can already present during the neonatal period, (2) treatment is available for at least 32, and (3) 26 can currently be identified by the analysis of acylcarnitines and amino acids in dried bloodspots (DBS).
Conclusion:
We advocate an extensive analysis of amino acids and acylcarnitines in blood/plasma/DBS and urine for all children who died suddenly and/or unexpectedly, including neonates in whom blood had not yet been drawn for the routine NBS test. The application of combined metabolite screening and DNA-sequencing techniques would facilitate fast identification and maximal diagnostic yield. This is important information for clinicians who need to maintain clinical awareness and decision-makers to improve population NBS programmes.
More Related Videos
10:55A Piglet Perinatal Asphyxia Model to Study Cardiac Injury and Hemodynamics after Cardiac Arrest, Resuscitation, and the Return of Spontaneous Circulation
Published on: January 13, 2023
06:46Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits
Published on: February 28, 2025