Quantification of Sulfatides in Dried Blood and Urine Spots From Metachromatic Leukodystrophy Patients by Liquid Chromatography/Electrospray Tandem Mass Spectrometry

Background Treatments are being developed for metachromatic leukodystrophy (MLD), suggesting the need for eventual newborn screening. Previous studies have shown that sulfatide molecular species are increased in the urine of MLD patients compared to samples from non-MLD individuals, but there is no data using dried blood spots (DBS), the most common sample available for newborn screening laboratories.