High-throughput assay of 9 lysosomal enzymes for newborn screening

Clinical Chemistry

Volumn 59, Issue 3, 2013, Pages 502-511

  Spacil, Zdenek ^a   Tatipaka, Haribabu ^a   Barcenas, Mariana ^a   Scott, C Ronald ^b   Turecek, Frantisek ^a   Gelb, Michael H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b Departments of Pediatrics and Laboratory Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; GALACTOSYLCERAMIDASE; GLUCOSYLCERAMIDASE; IDURONATE 2 SULFATASE; LEVO IDURONIDASE; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 4 SULFATASE; N ACETYLGALACTOSAMINE 6 SULFATASE; SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; CONTROLLED STUDY; ELECTROSPRAY; ENZYME ACTIVITY; ENZYME STRUCTURE; ENZYME SUBSTRATE; HIGH THROUGHPUT SCREENING; HUMAN; LIQUID CHROMATOGRAPHY; LYSOSOME STORAGE DISEASE; NEWBORN; NEWBORN SCREENING; REPRODUCIBILITY; SOLID PHASE EXTRACTION; STANDARD; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 84874614250     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2012.189936     Document Type: Article

References (19)

1. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley, MC et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009;40:245-52.
2. Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008;122:e39-45.
3. Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-96.
4. Li Y, Brockmann K, Turecek F, Scott CR, Gelb MN. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004;50:638-40.
5. Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 2008;54:2067-70.
6. Duffey TA, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal Chem 2010;82:9587-91.
7. Khaliq T, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. Clin Chem 2011;57:128-31.
8. Wolfe BJ, Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter syndrome). Anal Chem 2011;83:1152-6.
9. Spá cil Z, Elliott S, Reeber SL, Gelb MH, Scott CR, Turecek F. Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases. Anal Chem 2011;83:4822-8.
10. Spacil Z, Hui R, Gelb MH, Turecek F. Protonation sites and dissociation mechanisms of tbutylcarbamates in tandem mass spectrometric assays for newborn screening. J Mass Spectrom 2011;46:1089-98.
11. Gu M, Kerwin JL, Watts JD, Aebersold R. Ceramide profiling of complex lipid mixtures by electrospray ionization mass spectrometry. Anal Biochem 1997;244:347-56.
12. Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2007;93:275-81.
13. la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem 2009;81:6113-21.
14. Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL et al. Simplified newborn screening protocol for lysosomal storage disorders. Clin Chem 57:1286-94.
15. Duffey TA, Bellamy G, Elliott S, Fox AC, Glass M, Turecek F, et al. A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem 2010;56:1854-61.
16. Humbel R. Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI. Clin Chim Acta 1976;68:339-41.
17. Sista RS, Eckhardt AE, Wang T, Graham C, Rouse JL Norton SM, et al. Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. Clin Chem 2011;57:1444-51.
18. Sista R, Eckhardt AE, Wang T, Sellos-Moura M, Pamula VK. Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics. Clin Chim Acta 2011;412:1895-7.
19. Zhang XK, Elbin CS, Chuang W-L, Cooper SK, Marashio CA, Beauregard C, Keutzer JM. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008;54:1725-8.