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Multiplex Enzyme Assay for Galactosemia Using Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry
DC Field | Value | Language |
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dc.contributor.author | Ko, Dae-Hyun | - |
dc.contributor.author | Jun, Sun-Hee | - |
dc.contributor.author | Song, Sang Hoon | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.contributor.author | Park, Kyoung Un | - |
dc.contributor.author | Song, Young-Han | - |
dc.contributor.author | Song, Junghan | - |
dc.contributor.author | Kim, Jin Q. | - |
dc.date.accessioned | 2012-06-26T06:15:59Z | - |
dc.date.available | 2012-06-26T06:15:59Z | - |
dc.date.issued | 2010-05 | - |
dc.identifier.citation | CLINICAL CHEMISTRY; Vol.56 5; 764-771 | ko_KR |
dc.identifier.issn | 0009-9147 | - |
dc.identifier.uri | https://hdl.handle.net/10371/77453 | - |
dc.description.abstract | BACKGROUND: Galactosemia is one of the most important inherited disorders detected by newborn screening tests. Abnormal results in screening tests should be confirmed by enzyme activity assays, but existing methods are time and labor intensive. We developed a novel multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). METHODS: [(13)C6]-galactose, [(13)C2]-galactose-1-phosphate, and UDP-glucose were used as substrates for 3 galactose-metabolizing enzymes. The end products from the combined reaction mixtures, [(13)C6]-galactose-1-phosphate, UDP-[(13)C2]-galactose, and UDP-galactose, were simultaneously measured using UPLC-MS/MS. Linearity, imprecision, ion suppression, and the effects of substrate were evaluated to determine assay performance. Enzyme activities from 35 healthy individuals, 8 patients with enzyme deficiency, and 18 mutant cells were analyzed. RESULTS: Substrates, products, and internal standards from the mixture of 3 enzyme reactions were clearly separated by using UPLC-MS/MS, with an injection cycle time of 10 min. Ion suppression was 0.1%-2.5%, the interassay imprecision of UPLC-MS/MS was 3.3%-10.6% CV, and the linearity of each system was good (R(2) = 0.994-0.999). Patient samples and mutated cells showed consistently low enzyme activities compared with those of normal individuals and wild-type cells. CONCLUSIONS: This method allows for a high-throughput and reproducible multiplex enzyme assay for galactosemia in erythrocytes. (C) 2010 American Association for Clinical Chemistry | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | AMER ASSOC CLINICAL CHEMISTRY | ko_KR |
dc.title | Multiplex Enzyme Assay for Galactosemia Using Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 고대현 | - |
dc.contributor.AlternativeAuthor | 박경운 | - |
dc.contributor.AlternativeAuthor | 송영한 | - |
dc.contributor.AlternativeAuthor | 송정한 | - |
dc.contributor.AlternativeAuthor | 김진규 | - |
dc.contributor.AlternativeAuthor | 송상훈 | - |
dc.contributor.AlternativeAuthor | 전선희 | - |
dc.contributor.AlternativeAuthor | 박형두 | - |
dc.identifier.doi | 10.1373/clinchem.2009.139618 | - |
dc.citation.journaltitle | CLINICAL CHEMISTRY | - |
dc.description.citedreference | Park HD, 2005, GENET MED, V7, P646, DOI 10.1097/01.gim.0000194023.27802.2d | - |
dc.description.citedreference | Li YJ, 2004, CLIN CHEM, V50, P1785, DOI 10.1373/clinchem.2004.035907 | - |
dc.description.citedreference | Holden HM, 2004, CELL MOL LIFE SCI, V61, P2471, DOI 10.1007/s00018-004-4160-6 | - |
dc.description.citedreference | Nayar S, 2004, BIOCHEMISTRY-US, V43, P10212, DOI 10.1021/bi049569t | - |
dc.description.citedreference | Ramm M, 2004, J CHROMATOGR A, V1034, P139, DOI 10.1016/j.chroma.2004.02.023 | - |
dc.description.citedreference | SCHULZ J, 2004, J BIOL CHEM, V19, P32796 | - |
dc.description.citedreference | Matuszewski BK, 2003, ANAL CHEM, V75, P3019, DOI 10.1021/ac020361s | - |
dc.description.citedreference | Rabina J, 2001, GLYCOCONJUGATE J, V18, P799 | - |
dc.description.citedreference | Novelli G, 2000, MOL GENET METAB, V71, P62 | - |
dc.description.citedreference | Kochanowski N, 2006, ANAL BIOCHEM, V348, P243, DOI 10.1016/j.ab.2005.10.027 | - |
dc.description.citedreference | Park HD, 2007, MOL GENET METAB, V91, P234, DOI 10.1016/j.ymgme.2007.04.005 | - |
dc.description.citedreference | CUTHBERT C, 2008, CURR PROTOC HUM GENE, V56 | - |
dc.description.citedreference | Zhang XK, 2008, CLIN CHEM, V54, P1725, DOI 10.1373/clinchem.2008.104711 | - |
dc.description.citedreference | De Jesus VR, 2009, CLIN CHEM, V55, P158, DOI 10.1373/clinchem.2008.111864 | - |
dc.description.citedreference | Petry KG, 1998, TRENDS GENET, V14, P98 | - |
dc.description.citedreference | ROE TF, 1996, PHYS GUIDE LAB DIAGN, P345 | - |
dc.description.citedreference | SCRIVER CR, 1995, METABOLIC MOL BASES, P967 | - |
dc.description.citedreference | SHIN YS, 1991, TECHNIQUES DIAGNOSTI, P267 | - |
dc.description.citedreference | BROOKS EB, 1984, RED CELL METABOLISM | - |
dc.description.citedreference | HAY M, 1975, J BIOL CHEM, V250, P4373 | - |
dc.description.citedreference | NG WG, 1967, CLIN CHIM ACTA, V15, P489 | - |
dc.description.citedreference | COOPER DN, HUMAN GENE MUTATION | - |
dc.description.tc | 6 | - |
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