Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.
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.
Poplawski
N K
NK
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Ranieri
E
E
Harrison
J R
JR
Fletcher
J M
JM
D042964:Acyl-CoA Dehydrogenase; D044927:Electron-Transferring Flavoproteins; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000209:etiology*; D009097:Multienzyme Complexes / Q000172:deficiency*; D015997:Neonatal Screening; D000587:Oxidoreductases Acting on CH-NH Group Donors; D012189:Retrospective Studies; D013398:Sudden Infant Death / Q000097:blood / Q000209:etiology*
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase