AI Article Synopsis
- Neonatal screening for VLCADD has shown that elevated C14:1-carnitine levels can indicate the condition in newborns.
- Two cases presented elevated levels at day 3, but normal results by days 5 to 7, with one confirmed as VLCADD and the other as heterozygous.
- The findings suggest that higher C14:1-carnitine levels require further investigation, as they can lead to missed diagnoses during certain metabolic conditions.
Article Abstract
Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.
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| http://dx.doi.org/10.1016/j.jpeds.2006.02.037 | DOI Listing |
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