Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

Clinica Chimica Acta

Volumn 433, Issue , 2014, Pages 39-43

  Barcenas, Mariana ^a   Suhr, Teryn R ^b   Scott, C Ronald ^a   Turecek, Frantisek ^a   Gelb, Michael H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b MLD Foundation   (United States)

Author keywords

Dried blood spots; Lysosomal storage diseases; Metachromatic leukodystrophy; Newborn screening; Sulfatides; Tandem mass spectrometry; Urine

Indexed keywords

SULFATIDE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; HUMAN; INTERMETHOD COMPARISON; METACHROMATIC LEUKODYSTROPHY; MOLECULAR WEIGHT; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEPARATION TECHNIQUE; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; URINALYSIS; BLOOD; LIQUID CHROMATOGRAPHY; NEWBORN; PROCEDURES; URINE;

CHROMATOGRAPHY, LIQUID; DRIED BLOOD SPOT TESTING; HUMANS; INFANT, NEWBORN; LEUKODYSTROPHY, METACHROMATIC; SULFOGLYCOSPHINGOLIPIDS; TANDEM MASS SPECTROMETRY; URINALYSIS;

EID: 84896340000     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.12.016     Document Type: Article

References (13)

1. Von Figura K. Metachromatic leukodystrophy. Metabolic and Molecular Basis of Inherited Disease 2001, Vol. 3:3696-3724. McGraw-Hill, New York.
2. Heim P., Claussen M., Hoffmann B., et al. Leukodystrophy incidence in Germany. Am J Med Genet 1997, 71:151-156.
3. Biffi A., Montini E., Lorioli L., et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013, 341:1233158.
4. Chamoles N.A., Niizawa G., Blanco M., Gaggioli D., Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004, 347:97-102.
5. Spacil Z., Tatipaka H.-B., Marcenas M., Scott C.R., Turecek F., Gelb M.H. High throughput assay of nine lysosomal enzymes for newborn screening. Clin Chem 2013, 59:502-511.
6. Fluharty A.L. Arylsulfatase A deficiency 1983, R.A. Pagon, M.P. Adam, T.D. Bird, C.R. Dolan, C.T. Fong, K. Stephens (Eds.).
7. Tan M.A., Fuller M., Zabidi-Hussin Z.A., Hopwood J.J., Meikle P.J. Biochemical profiling to predict disease severity in metachromatic leukodystrophy. Mol Genet Metab 2010, 99:142-148.
8. Natowicz M.R., Prence E.M., Chaturvedi P., Newburg D.S. Urine sulfatides and the diagnosis of metachromatic leukodystrophy. Clin Chem 1996, 42:232-238.
9. Cui Y., Colsch B., Afonso C., et al. Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies. Glycoconj J 2008, 25:147-155.
10. Kuchar L., Asfaw B., Poupetova H., Honzikova J., Turecek F., Ledvinova J. Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy. Clin Chim Acta 2013, 425c:153-159.
11. Nishio H., Kodama S., Matsuo T. Analysis of fatty acids and sphingosines from urinary sulfatides in a patient with metachromatic leukodystrophy by gas chromatography-mass spectrometry. Brain Dev 1985, 7:614-621.
12. Whitfield P.D., Sharp P.C., Johnson D.W., Nelson P., Meikle P.J. Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry. Mol Genet Metab 2001, 73:30-37.
13. Blanchard S., Turecek F., Gelb M.H. Short synthetic sequence for 2-sulfation of alpha-l-iduronate glycosides. Carbohydr Res 2009, 344:1032-1033.