Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method
Newborn screening for X-linked adrenoleukodystrophy (X-ALD) has until now been limited
in implementation because of the lack of an accepted standard methodology. We have
previously reported a technique using LC–MS/MS analysis that could provide the basis for
screening of newborns for X-ALD. The target analyte diagnostic for X-ALD and other
peroxisomal disorders of peroxisomal β-oxidation is 1-hexacosanoyl-2-lyso-sn-3-glycero-
phosphorylcholine (26: 0-lyso-PC). We report here the validation of the analytical method …
in implementation because of the lack of an accepted standard methodology. We have
previously reported a technique using LC–MS/MS analysis that could provide the basis for
screening of newborns for X-ALD. The target analyte diagnostic for X-ALD and other
peroxisomal disorders of peroxisomal β-oxidation is 1-hexacosanoyl-2-lyso-sn-3-glycero-
phosphorylcholine (26: 0-lyso-PC). We report here the validation of the analytical method …