Premium
Pseudo‐glutarylcarnitinaemia in medium‐chain acyl‐CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
Author(s) -
Napolitano N.,
Wiley V.,
Pitt J. J.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000037343.90450.8d
Subject(s) - newborn screening , carnitine , catabolism , tandem mass spectrometry , chemistry , dehydrogenase , endocrinology , medicine , acyl coa dehydrogenase , mass spectrometry , metabolism , enzyme , biochemistry , chromatography
Summary: As well as characteristic increases in C 8 carnitine, dried blood spot samples from 11 newborns with medium‐chain acyl‐CoA dehydrogenase deficiency detected by tandem mass spectrometry screening using butyl esters showed apparent increases in glutarylcarnitine ( m / z 388 signals). In four of the newborns in which it was measured, apparent increases in malonylcarnitine ( m / z 360) were also detected. It was shown that the apparent increases were caused by interfering acylcarnitines, putatively identified as hydroxyoctanoylcarnitine and hydroxydecanoylcarnitine, respectively, using alternative derivatives for tandem mass spectrometry. Levels of the two abnormal carnitines correlated with C 8 carnitine levels and normalized with repeat testing in 10 cases. These results indicated that the abnormal carnitines were significantly elevated only during periods of increased fatty acid catabolism, as may occur in the immediate postnatal period.