Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.
case_report · Level V
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Abstract
We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry.
Medical subject headings
- Electron-Transferring Flavoproteins
- Fatty Acid Desaturases
- Iron-Sulfur Proteins
- Metabolism, Inborn Errors
- Multienzyme Complexes
- Oxidoreductases Acting on CH-NH Group Donors
- Sudden Infant Death