Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Inborn Errors of Metabolism and Sudden Infant Death: A Call for Enhanced Neonatal Screening

Sudden infant death (SID) is a devastating tragedy that has long plagued families and medical professionals. While many factors can contribute to SID, inborn errors of metabolism (IEMs) have emerged as a significant contributor. Early detection of IEMs is crucial to prevent tragic outcomes. Population neonatal bloodspot screening (NBS) programs have significantly improved the identification of IEMs, but there are still gaps in coverage and limitations in the timeliness of diagnosis.

The Importance of Early Detection and the Limitations of Current Screening Programs

This systematic review delves into the connection between IEMs and SID, highlighting the importance of early detection and the limitations of current NBS programs. The review reveals that many IEMs can present with symptoms that mimic SID. Some cases go undetected because symptoms manifest before NBS results become available, or even before the sample is collected. Additionally, there are IEMs that are not included in current NBS programs.

Advocating for Expanded and Improved Neonatal Screening

The findings underscore the need for expanded and improved NBS programs to encompass a wider range of IEMs and to expedite the diagnostic process. This crucial step can significantly reduce the incidence of SID and improve the health outcomes of infants.

Dr. Camel's Conclusion

Just as a camel navigates through the treacherous desert sands, we must carefully navigate the complex world of IEMs. This research emphasizes the importance of proactive and comprehensive neonatal screening to protect vulnerable infants from the devastating consequences of undetected IEMs. Expanding and refining NBS programs will ultimately contribute to a safer future for our youngest members.