Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns

Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase t...

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Vydáno v:	Clinical chemistry (Baltimore, Md.) Ročník 57; číslo 10; s. 1444 - 1451
Hlavní autoři:	Sista, Ramakrishna S, Eckhardt, Allen E, Wang, Tong, Graham, Carrie, Rouse, Jeremy L, Norton, Scott M, Srinivasan, Vijay, Pollack, Michael G, Tolun, Adviye A, Bali, Deeksha, Millington, David S, Pamula, Vamsee K
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Washington, DC American Association for Clinical Chemistry 01.10.2011 Oxford University Press
Témata:	alpha-Galactosidase - blood alpha-Glucosidases - blood Analytical, structural and metabolic biochemistry Automation Biological and medical sciences Clinical Enzyme Tests - instrumentation Disease Enzymatic activity Fabry Disease - diagnosis Fluorometry Fundamental and applied biological sciences. Psychology Genetics Glycogen Storage Disease Type II - diagnosis Humans Infant, Newborn Investigative techniques, diagnostic techniques (general aspects) Lab-On-A-Chip Devices Medical sciences Medical screening Methods Microfluidic Analytical Techniques - instrumentation Molecular biophysics Neonatal Screening Public health Human Assay Multiplexing Newborn Enzyme Clinical biology Biochemistry Molecular biology Medical screening Lysosomal storage disease
ISSN:	0009-9147, 1530-8561, 1530-8561
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Abstract	Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained using standard fluorometric methods. We performed bench-based, fluorometric enzymatic analysis on 60 deidentified newborn dried blood spots (DBSs), plus 10 Pompe-affected and 11 Fabry-affected samples, at Duke Biochemical Genetics Laboratory using a 3-mm punch for each assay and an incubation time of 20 h. We used a digital microfluidic platform to automate fluorometric enzymatic assays at Advanced Liquid Logic Inc. using extract from a single punch for both assays, with an incubation time of 6 h. Assays were also performed with an incubation time of 1 h. Assay results were generally comparable, although mean enzymatic activity for GAA using microfluidics was approximately 3 times higher than that obtained using bench-based methods, which could be attributed to higher substrate concentration. Clear separation was observed between the normal and affected samples at both 6- and 1-h incubation times using digital microfluidics. A digital microfluidic platform compared favorably with a clinical reference laboratory to perform enzymatic analysis in DBSs for Pompe and Fabry disorders. This platform presents a new technology for a newborn screening laboratory to screen LSDs by fully automating all the liquid-handling operations in an inexpensive system, providing rapid results.
AbstractList	Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained using standard fluorometric methods.BACKGROUNDNewborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained using standard fluorometric methods.We performed bench-based, fluorometric enzymatic analysis on 60 deidentified newborn dried blood spots (DBSs), plus 10 Pompe-affected and 11 Fabry-affected samples, at Duke Biochemical Genetics Laboratory using a 3-mm punch for each assay and an incubation time of 20 h. We used a digital microfluidic platform to automate fluorometric enzymatic assays at Advanced Liquid Logic Inc. using extract from a single punch for both assays, with an incubation time of 6 h. Assays were also performed with an incubation time of 1 h.METHODSWe performed bench-based, fluorometric enzymatic analysis on 60 deidentified newborn dried blood spots (DBSs), plus 10 Pompe-affected and 11 Fabry-affected samples, at Duke Biochemical Genetics Laboratory using a 3-mm punch for each assay and an incubation time of 20 h. We used a digital microfluidic platform to automate fluorometric enzymatic assays at Advanced Liquid Logic Inc. using extract from a single punch for both assays, with an incubation time of 6 h. Assays were also performed with an incubation time of 1 h.Assay results were generally comparable, although mean enzymatic activity for GAA using microfluidics was approximately 3 times higher than that obtained using bench-based methods, which could be attributed to higher substrate concentration. Clear separation was observed between the normal and affected samples at both 6- and 1-h incubation times using digital microfluidics.RESULTSAssay results were generally comparable, although mean enzymatic activity for GAA using microfluidics was approximately 3 times higher than that obtained using bench-based methods, which could be attributed to higher substrate concentration. Clear separation was observed between the normal and affected samples at both 6- and 1-h incubation times using digital microfluidics.A digital microfluidic platform compared favorably with a clinical reference laboratory to perform enzymatic analysis in DBSs for Pompe and Fabry disorders. This platform presents a new technology for a newborn screening laboratory to screen LSDs by fully automating all the liquid-handling operations in an inexpensive system, providing rapid results.CONCLUSIONSA digital microfluidic platform compared favorably with a clinical reference laboratory to perform enzymatic analysis in DBSs for Pompe and Fabry disorders. This platform presents a new technology for a newborn screening laboratory to screen LSDs by fully automating all the liquid-handling operations in an inexpensive system, providing rapid results. Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained using standard fluorometric methods. We performed bench-based, fluorometric enzymatic analysis on 60 deidentified newborn dried blood spots (DBSs), plus 10 Pompe-affected and 11 Fabry-affected samples, at Duke Biochemical Genetics Laboratory using a 3-mm punch for each assay and an incubation time of 20 h. We used a digital microfluidic platform to automate fluorometric enzymatic assays at Advanced Liquid Logic Inc. using extract from a single punch for both assays, with an incubation time of 6 h. Assays were also performed with an incubation time of 1 h. Assay results were generally comparable, although mean enzymatic activity for GAA using microfluidics was approximately 3 times higher than that obtained using bench-based methods, which could be attributed to higher substrate concentration. Clear separation was observed between the normal and affected samples at both 6- and 1-h incubation times using digital microfluidics. A digital microfluidic platform compared favorably with a clinical reference laboratory to perform enzymatic analysis in DBSs for Pompe and Fabry disorders. This platform presents a new technology for a newborn screening laboratory to screen LSDs by fully automating all the liquid-handling operations in an inexpensive system, providing rapid results. Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysis of acid α-glucosidase (GAA) and acid α-galactosidase to screen for Pompe and Fabry disorders. The results were compared with those obtained using standard fluorometric methods. We performed bench-based, fluorometric enzymatic analysis on 60 deidentified newborn dried blood spots (DBSs), plus 10 Pompe-affected and 11 Fabry-affected samples, at Duke Biochemical Genetics Laboratory using a 3-mm punch for each assay and an incubation time of 20 h. We used a digital microfluidic platform to automate fluorometric enzymatic assays at Advanced Liquid Logic Inc. using extract from a single punch for both assays, with an incubation time of 6 h. Assays were also performed with an incubation time of 1 h. Assay results were generally comparable, although mean enzymatic activity for GAA using microfluidics was approximately 3 times higher than that obtained using bench-based methods, which could be attributed to higher substrate concentration. Clear separation was observed between the normal and affected samples at both 6- and 1-h incubation times using digital microfluidics. A digital microfluidic platform compared favorably with a clinical reference laboratory to perform enzymatic analysis in DBSs for Pompe and Fabry disorders. This platform presents a new technology for a newborn screening laboratory to screen LSDs by fully automating all the liquid-handling operations in an inexpensive system, providing rapid results.
Author	Pollack, Michael G Norton, Scott M Rouse, Jeremy L Eckhardt, Allen E Bali, Deeksha Sista, Ramakrishna S Srinivasan, Vijay Graham, Carrie Tolun, Adviye A Pamula, Vamsee K Wang, Tong Millington, David S
AuthorAffiliation	1 Advanced Liquid Logic, Research Triangle Park, NC 2 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC
AuthorAffiliation_xml	– name: 1 Advanced Liquid Logic, Research Triangle Park, NC – name: 2 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC
Author_xml	– sequence: 1 givenname: Ramakrishna S surname: Sista fullname: Sista, Ramakrishna S organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 2 givenname: Allen E surname: Eckhardt fullname: Eckhardt, Allen E organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 3 givenname: Tong surname: Wang fullname: Wang, Tong organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 4 givenname: Carrie surname: Graham fullname: Graham, Carrie organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 5 givenname: Jeremy L surname: Rouse fullname: Rouse, Jeremy L organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 6 givenname: Scott M surname: Norton fullname: Norton, Scott M organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 7 givenname: Vijay surname: Srinivasan fullname: Srinivasan, Vijay organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 8 givenname: Michael G surname: Pollack fullname: Pollack, Michael G organization: Advanced Liquid Logic, Research Triangle Park, NC – sequence: 9 givenname: Adviye A surname: Tolun fullname: Tolun, Adviye A organization: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC – sequence: 10 givenname: Deeksha surname: Bali fullname: Bali, Deeksha organization: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC – sequence: 11 givenname: David S surname: Millington fullname: Millington, David S organization: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC – sequence: 12 givenname: Vamsee K surname: Pamula fullname: Pamula, Vamsee K organization: Advanced Liquid Logic, Research Triangle Park, NC
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Cites_doi	10.1373/clinchem.2008.112110 10.1373/clinchem.2008.104711 10.1097/01.gim.0000217781.66786.9b 10.1373/clinchem.2004.035907 10.1016/j.cccn.2004.04.009 10.1053/j.semperi.2009.12.008 10.1373/clinchem.2008.111864 10.1016/j.ymgme.2010.09.008 10.1016/S0009-8981(01)00478-8 10.1039/b814922d 10.1373/clinchem.2008.107722 10.1002/humu.21074 10.1007/s10545-010-9130-6 10.1542/peds.2008-3667 10.1016/j.pediatrneurol.2008.11.010 10.1039/b403341h 10.3928/00904481-20090723-09 10.1016/j.ymgme.2006.02.013 10.1016/j.jpeds.2011.02.026 10.1542/peds.32.3.338 10.1373/clinchem.2009.141622 10.1373/clinchem.2010.152009 10.1093/clinchem/46.1.126 10.1007/BF01799385
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References	Adam (2020022704544787300_B22) 2000; 46 Guthrie (2020022704544787300_B1) 1963; 32 Millington (2020022704544787300_B2) 1990; 13 Meikle (2020022704544787300_B12) 2006; 88 Marsden (2020022704544787300_B6) 2010; 56 Zhou (2020022704544787300_B18) 2011; 159 Zhang (2020022704544787300_B10) 2008; 54 Millington (2020022704544787300_B4) 2008; 54 Chien (2020022704544787300_B16) 2009; 124 Srinivasan (2020022704544787300_B19) 2004; 4 Desnick (2020022704544787300_B21) 2001 Zhang (2020022704544787300_B15) 2006; 8 Oemardien (2020022704544787300_B25) 2011; 102 Lim-Melia (2020022704544787300_B3) 2009; 38 Chamoles (2020022704544787300_B8) 2004; 347 Sista (2020022704544787300_B23) 2008; 8 Duffey (2020022704544787300_B11) 2010; 56 Hwu (2020022704544787300_B5) 2010; 33 Chamoles (2020022704544787300_B7) 2001; 308 Li (2020022704544787300_B9) 2004; 50 De Jesus (2020022704544787300_B24) 2009; 55 Duffner (2020022704544787300_B13) 2009; 40 Hwu (2020022704544787300_B17) 2009; 30 Millington (2020022704544787300_B20) 2010; 34 Dajnoki (2020022704544787300_B14) 2008; 54
References_xml	– start-page: 3733 volume-title: The metabolic and molecular bases of inherited disease. year: 2001 ident: 2020022704544787300_B21 article-title: α-Galactosidase A deficiency: Fabry disease. – volume: 54 start-page: 1592 year: 2008 ident: 2020022704544787300_B4 article-title: Rapid and effective screening for lysosomal storage disease: how close are we? publication-title: Clin Chem doi: 10.1373/clinchem.2008.112110 – volume: 54 start-page: 1725 year: 2008 ident: 2020022704544787300_B10 article-title: Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry publication-title: Clin Chem doi: 10.1373/clinchem.2008.104711 – volume: 8 start-page: 302 year: 2006 ident: 2020022704544787300_B15 article-title: A comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease publication-title: Genet Med doi: 10.1097/01.gim.0000217781.66786.9b – volume: 50 start-page: 1785 year: 2004 ident: 2020022704544787300_B9 article-title: Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening publication-title: Clin Chem doi: 10.1373/clinchem.2004.035907 – volume: 347 start-page: 97 year: 2004 ident: 2020022704544787300_B8 article-title: Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper publication-title: Clin Chim Acta doi: 10.1016/j.cccn.2004.04.009 – volume: 34 start-page: 163 year: 2010 ident: 2020022704544787300_B20 article-title: Digital microfluidics: a future technology in the newborn screening laboratory? publication-title: Semin Perinatol doi: 10.1053/j.semperi.2009.12.008 – volume: 55 start-page: 158 year: 2009 ident: 2020022704544787300_B24 article-title: Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders publication-title: Clin Chem doi: 10.1373/clinchem.2008.111864 – volume: 102 start-page: 44 year: 2011 ident: 2020022704544787300_B25 article-title: Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2010.09.008 – volume: 308 start-page: 195 year: 2001 ident: 2020022704544787300_B7 article-title: Fabry disease: enzymatic diagnosis in dried blood spots on filter paper publication-title: Clin Chim Acta doi: 10.1016/S0009-8981(01)00478-8 – volume: 8 start-page: 2091 year: 2008 ident: 2020022704544787300_B23 article-title: Development of a digital microfluidic platform for point of care testing publication-title: Lab Chip doi: 10.1039/b814922d – volume: 54 start-page: 1624 year: 2008 ident: 2020022704544787300_B14 article-title: Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry publication-title: Clin Chem doi: 10.1373/clinchem.2008.107722 – volume: 30 start-page: 1397 year: 2009 ident: 2020022704544787300_B17 article-title: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919G>A (IVS4+919G>A) publication-title: Hum Mutat doi: 10.1002/humu.21074 – volume: 33 start-page: 381 year: 2010 ident: 2020022704544787300_B5 article-title: Newborn screening for neuropathic lysosomal storage disorders publication-title: J Inherit Metab Dis doi: 10.1007/s10545-010-9130-6 – volume: 124 start-page: e1116 year: 2009 ident: 2020022704544787300_B16 article-title: Pompe disease in infants: improving the prognosis by newborn screening and early treatment publication-title: Pediatrics doi: 10.1542/peds.2008-3667 – volume: 40 start-page: 245 year: 2009 ident: 2020022704544787300_B13 article-title: Newborn screening for Krabbe disease: the New York State model publication-title: Pediatr Neurol doi: 10.1016/j.pediatrneurol.2008.11.010 – volume: 4 start-page: 310 year: 2004 ident: 2020022704544787300_B19 article-title: An integrated digital microfluidic lab-on-a-chip for clinical diagnostics on human physiological fluids publication-title: Lab Chip doi: 10.1039/b403341h – volume: 38 start-page: 448 year: 2009 ident: 2020022704544787300_B3 article-title: Current enzyme replacement therapy for the treatment of lysosomal storage diseases publication-title: Pediatr Ann doi: 10.3928/00904481-20090723-09 – volume: 88 start-page: 307 year: 2006 ident: 2020022704544787300_B12 article-title: Newborn screening for lysosomal storage disorders publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2006.02.013 – volume: 159 start-page: 7 year: 2011 ident: 2020022704544787300_B18 article-title: Newborn bloodspot screening for lysosomal storage disorders publication-title: J Pediatr doi: 10.1016/j.jpeds.2011.02.026 – volume: 32 start-page: 338 year: 1963 ident: 2020022704544787300_B1 article-title: A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants publication-title: Pediatrics doi: 10.1542/peds.32.3.338 – volume: 56 start-page: 1071 year: 2010 ident: 2020022704544787300_B6 article-title: Newborn screening of lysosomal storage disorders publication-title: Clin Chem doi: 10.1373/clinchem.2009.141622 – volume: 56 start-page: 1854 year: 2010 ident: 2020022704544787300_B11 article-title: A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe and mucopolysaccharidosis-I (Hurler) publication-title: Clin Chem doi: 10.1373/clinchem.2010.152009 – volume: 46 start-page: 126 year: 2000 ident: 2020022704544787300_B22 article-title: Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume and paper matrix publication-title: Clin Chem doi: 10.1093/clinchem/46.1.126 – volume: 13 start-page: 321 year: 1990 ident: 2020022704544787300_B2 article-title: Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism publication-title: J Inherit Metab Dis doi: 10.1007/BF01799385
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Snippet	Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We...
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SubjectTerms	alpha-Galactosidase - blood alpha-Glucosidases - blood Analytical, structural and metabolic biochemistry Automation Biological and medical sciences Clinical Enzyme Tests - instrumentation Disease Enzymatic activity Fabry Disease - diagnosis Fluorometry Fundamental and applied biological sciences. Psychology Genetics Glycogen Storage Disease Type II - diagnosis Humans Infant, Newborn Investigative techniques, diagnostic techniques (general aspects) Lab-On-A-Chip Devices Medical sciences Medical screening Methods Microfluidic Analytical Techniques - instrumentation Molecular biophysics Neonatal Screening Public health
Title	Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns
URI	https://www.ncbi.nlm.nih.gov/pubmed/21859904 https://www.proquest.com/docview/1019963864 https://www.proquest.com/docview/895855771 https://pubmed.ncbi.nlm.nih.gov/PMC8917906
Volume	57
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