Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carntine analysis of a 12-year-old newborn screening card

Authors
Poplawski, NK Ranieri, E Harrison, JR Fletcher, JM
Citation
Nk. Poplawski et al., Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carntine analysis of a 12-year-old newborn screening card, J PEDIAT, 134(6), 1999, pp. 764-766
Citations number
8
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
134
Issue
6
Year of publication
1999
Pages
764 - 766
Database
ISI
SICI code
0022-3476(199906)134:6<764:MAADDD>2.0.ZU;2-M
Abstract
We report a family who experienced an unexplained neonatal death. Twelve ye ars after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profil e in the child's archived newborn screening card, using tandem mass spectro metry.