Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.
Publication types: Case Reports ; Journal Article
Background: In camitine palmitoyltransferase I (CPT-I) deficiency (MIM255120), free carnitine can be increased with no pathologicacylcarnitine species detectable. As inclusion of CPT-l deficiency inhigh-risk and newborn screening could prevent potentiallylife-threatening complications, we tested whether CPT-I deficiencymight be diagnosed by electrospray ionization-tandem mass spectrometry(ESI-MS/MS).Methods: A 3.2-mm spot of whole blood dried on filter paper wasextracted with 150 muL of methanol. After derivatization of carnitineand acylcarnitines to their butyl esters, the samples were analyzed byESI-MS/MS with 37.5 pmol Of L-[H-2(3)]carnitine and 7.5 pmol ofL-[H-2(3)]palmitoylcarnitine as internal standards.Results: In all dried-blood specimens from each of three patients withCPT-I deficiency, we found an invariably increased ratio of freecarnitine to the sum of palmitoylcarnitine and stearoylcarnitine[C0/(C16 + C18)]. The ratio in patients was between 175 and 2000, or5- to 60-fold higher than the ratio for the 99.9th centile of thenormal newborn population in Bavaria (n = 177 842). No overlap with thevalues of children that were known to be supplemented with carnitinewas detected [C0/ (C16 + C18), 34 +/- 30; mean +/- SD; n = 27].Conclusions: ESI-MS/MS provides a highly specific acylcarnitine profilefrom dried-blood samples. The ratio of free carnitine to the sum ofpalmitoylcarnitine and stearoylcarnitine [C0/(C16 + C18)] is highlyspecific for CPT-I deficiency and may allow presymptomatic diagnosis.(C) 2001 American Association for Clinical Chemistry.
Biological Markers/blood, Blood Specimen Collection, Carnitine/analogs & derivatives, Carnitine/blood, Carnitine O-Palmitoyltransferase/deficiency, Humans, Infant, Infant, Newborn, Liver/enzymology, Male, Neonatal Screening, Paper, Sensitivity and Specificity, Spectrometry, Mass, Electrospray Ionization
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