Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry
نویسندگان
چکیده
منابع مشابه
Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.
BACKGROUND We developed a method to determine the urinary concentrations of metabolites in the synthetic pathway for carnitine from N(6)-trimethyllysine and applied this method to determine their excretion in control individuals. In addition, we investigated whether newborns are capable of carnitine synthesis from deuterium-labeled N(6)-trimethyllysine. METHODS Urine samples were first deriva...
متن کاملAnalysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry
Acylcarnitine profiling by electrospray ionization tandem mass spectrometry (ESI-MS/MS) is a potent tool for the diagnosis and screening of fatty acid oxidation and organic acid disorders. Few studies have analyzed free carnitine and acylcarnitines in dried blood spots (DBS) of umbilical cord blood (CB) and the postnatal changes in the concentrations of these analytes. We have investigated thes...
متن کاملDetection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal...
متن کاملAge-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometry.
BACKGROUND The acylcarnitine profiles obtained from dried blood spots on "Guthrie cards" have been widely used for the diagnosis and follow-up of children suspected of carrying an inherited error of metabolism, but little attention has been paid to potential age-related variations in the reference values. In this study, we evaluated the variations in free carnitine and acylcarnitine concentrati...
متن کاملElectrospray and tandem mass spectrometry in biochemistry.
Over the last 20 years, biological MS has changed out of all recognition. This is primarily due to the development in the 1980s of 'soft ionization' methods that permit the ionization and vaporization of large, polar, and thermally labile biomolecules. These developments in ionization mode have driven the design and manufacture of smaller and cheaper mass analysers, making the mass spectrometer...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2003
ISSN: 0031-3998,1530-0447
DOI: 10.1203/01.pdr.0000059220.39578.3d