Digital microfluidic platform for multiplexing enzyme assays: Implications for lysosomal storage disease screening in newborns

Clinical Chemistry

Volumn 57, Issue 10, 2011, Pages 1444-1451

  Sista, Ramakrishna S ^a   Eckhardt, Allen E ^a   Wang, Tong ^a   Graham, Carrie ^a   Rouse, Jeremy L ^a   Norton, Scott M ^a   Srinivasan, Vijay ^a   Pollack, Michael G ^a   Tolun, Adviye A ^b   Bali, Deeksha ^b   Millington, David S ^b   Pamula, Vamsee K ^a  

^a Advanced Liquid Logic Inc   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE;

ARTICLE; BLOOD ANALYSIS; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME SUBSTRATE; FABRY DISEASE; FLUOROMETRY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INCUBATION TIME; INTERMETHOD COMPARISON; LAB ON A CHIP; MICROFLUIDICS; NEWBORN SCREENING;

ALPHA-GALACTOSIDASE; ALPHA-GLUCOSIDASES; CLINICAL ENZYME TESTS; FABRY DISEASE; FLUOROMETRY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LAB-ON-A-CHIP DEVICES; MICROFLUIDIC ANALYTICAL TECHNIQUES; NEONATAL SCREENING;

EID: 80053400022     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.163139     Document Type: Article

References (25)

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43.
2. Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4. (Pubitemid 20338872)
3. Lim-Melia ER, Kronn DF. Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Pediatr Ann 2009;38:448-55.
4. Millington DS. Rapid and effective screening for lysosomal storage disease: how close are we? Clin Chem 2008;54:1592-4.
5. Hwu WL, Chien YH, Lee NC. Newborn screening for neuropathic lysosomal storage disorders. J Inherit Metab Dis 2010;33:381-6.
6. Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem 2010;56:1071-9.
7. Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-6. (Pubitemid 32537628)
8. Chamoles NA, 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. (Pubitemid 39099610)
9. Li Y, Scott RC, 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. (Pubitemid 39298007)
10. Zhang XK, Elbin CS, Chuang WL, Cooper SK, Marashio CA, Beauregard C, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008;54:1725-8.
11. 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.
12. Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14. (Pubitemid 44107765)
13. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009;40:245-52.
14. Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, DeJesus V, et al. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem 2008;54:1624-9.
15. Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, et al. A comparison of maltose and acarbose as inhibitors of maltaseglucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 2006;8:302-6. (Pubitemid 44297317)
16. Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009;124:e1116-25.
17. Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+ 919G>A (IVS4+919G>A). Hum Mutat 2009;30:1397-405.
18. Zhou H, Fernhoff P, Vogt RF. Newborn bloodspot screening for lysosomal storage disorders. J Pediatr 2011;159:7-13e1.
19. Srinivasan V, Pamula VK, Fair RB. An integrated digital microfluidic lab-on-a-chip for clinical diagnostics on human physiological fluids. Lab Chip 2004;4:310 -5.
20. Millington DS, Sista RS, Eckhardt A, Rouse J, Bali D, Goldberg R, et al. Digital microfluidics: a future technology in the newborn screening laboratory? Semin Perinatol 2010;34:163-9.
21. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Wonsiewicz M, Noujaim S, Boyle P, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p 3733-74.
22. Adam B, Alexander J, Smith S, Chace D, Loeber J, Elvers L, et al. Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume and paper matrix. Clin Chem 2000;46:126-8. (Pubitemid 30090972)
23. Sista RS, Hua Z, Thwar P, Sudarsan A, Srinivasan V, Eckhardt A, et al. Development of a digital microfluidic platform for point of care testing. Lab Chip 2008;8:2091-104.
24. De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Muhl A, Orsini JJ et al. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 2009;55:158-64.
25. Oemardien LF, Boer AM, Ruijter GJG, Ploeg, ATV, De Klerk, JBC, Reuser AJJ, et al. Hemoglobin precipitation greatly improves 4-methylumbelliferone- based diagnostic assays for lysosomal storage diseases in dried blood spots. Mol Genet Metab 2011;102:44-8.