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Clin Chim Acta. 2013 Oct 21;425:153-9. doi: 10.1016/j.cca.2013.06.027. Epub 2013 Jul 6.

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

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Institute of Inherited Metabolic Diseases, First Faculty of Medicine and General Teaching Hospital, Charles University, 128 08 Prague, Czech Republic.



Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine.


The procedure allows isolation of urinary sulfatides by solid-phase extraction on DEAE-cellulose membranes, transportation of a dry membrane followed by elution and tandem mass spectrometry (MS/MS) analysis in the clinical laboratory. Major sulfatide isoforms are normalized to the least variable component of the spectrum, which is the indigenous C18:0 isoform. This procedure does not require the use of specific internal standards and minimizes errors caused by sample preparation and measurement.


Urinary sulfatides were analyzed in a set of 21 samples from patients affected by sulfatidosis. The combined abundance of the five most elevated isoforms, C22:0, C22:0-OH, C24:0, C24:1-OH, and C24:0-OH sulfatides, was found to give the greatest distinction between MLD-affected patients and a control group.


The method avoids transportation of liquid urine samples and generates stable membrane-bound sulfatide samples that can be stored at ambient temperature. MS/MS sulfatide profiling targeted on the most MLD-representative isoforms is simple with robust results and is suitable for screening.


ASA; CV; DEAE; DEAE-cellulose membrane; DUS; Diethylaminoethyl; Dry urinary samples; IPN; Isoforms; MLD; MS/MS; PTFE; Psap-d; S/N; SRM; Screening for metachromatic leukodystrophy; Tandem mass spectrometry; Urinary sulfatide; arylsulfatase A; coefficient of variation; dry urinary sample; isoform profile number (ratio of the sum of the major five isoforms and the C18:0 sulfatide); metachromatic leukodystrophy; polytetrafluoroethylene; prosaposin deficiency; selected reaction monitoring; signal to noise ratio; tandem mass spectrometry

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