Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20056241.
- Also identified by DOI 10.1016/j.jpeds.2009.10.031.
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Abstract
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can be detected through newborn screening with tandem mass spectrometry. We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD.
Medical subject headings
- Acyl-CoA Dehydrogenase, Long-Chain
- Neonatal Screening
- Tandem Mass Spectrometry