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Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.
Hind Alsharhan1,2,3, Amir A Ahmed3,4, Marwa Abdullah3,4
1Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat 13110, Kuwait.
International Journal of Neonatal Screening
|March 26, 2025
Summary
Kuwait
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency was established in Kuwait in October 2014.
- VLCAD deficiency is a rare genetic disorder affecting fatty acid metabolism.
Purpose of the Study:
- To provide the first comprehensive review of newborn screening for VLCAD deficiency in Kuwait.
- To evaluate the effectiveness of the current screening protocol and suggest improvements.
Main Methods:
- Analysis of screening data from January 2015 to December 2021 for 356,819 newborns.
- Detection of elevated blood C14:1 levels in dried blood spots as a first-tier test.
- Confirmatory testing using acylcarnitine profiling and molecular testing.
Main Results:
- Diagnosed 43 newborns with VLCAD deficiency, with an incidence of 1:8290 overall and 1:5405 among Kuwaiti newborns.
- Incorporating the C14:1/C2 ratio improved the positive predictive value (PPV) of first-tier testing.
- Recommended adding molecular genetic testing as a second-tier strategy to enhance specificity.
Conclusions:
- Kuwait's expanded newborn screening program successfully enables early detection of VLCAD deficiency.
- Early detection prevents mortality and morbidity in affected infants.
- Optimizing screening markers and incorporating genetic testing can further enhance program efficacy.
