Роль тандемной масс-спектрометрии в диагностике наследственных болезней обмена веществ
https://doi.org/10.17650/2311-1267-2018-5-3-96-105
Аннотация
В статье рассматривается применение тандемной масс-спектрометрии в диагностике и скрининге наследственных болезней обмена веществ. Широкий спектр заболеваний, специфичность, простота пробоподготовки и высокая пропускная способность, обеспечиваемая технологией тандемой масс-спетрометрии (МС/МС), привели к разработке во многих странах программ расширенного скрининга новорожденных на аминоацидопатии, органические ацидурии и дефекты окисления жирных кислот (ОЖК). Применение МС/МС в селективном скрининге позволило существенно улучшить диагностику некоторых классов заболеваний, таких как дефекты ОЖК. Новые специфические и быстрые методы МС/МС и высоко эффективной жидкостной хроматографии–МС/МС дополняют или заменяют некоторые из классических методов газовой хроматографии с масс-спектрометрической детекцией для множества метаболитов и заболеваний. В ближайшее время следует ожидать появления новых перспективных методов для диагностики не только отдельных нозологических форм, но и целых групп наследственных болезней обмена веществ.
Об авторах
Г. В. Байдакова
ФГБНУ Медико-генетический научный центр
Россия
Россия
Галина Викторовна Байдакова.
115522, Москва, ул. Москворечье, 1Т. А. Иванова
ФГБНУ Медико-генетический научный центр
Россия
Россия
115522, Москва, ул. Москворечье, 1
Е. Ю. Захарова
ФГБНУ Медико-генетический научный центр
Россия
Россия
115522, Москва, ул. Москворечье, 1
О. С. Кокорина
Медицинская компания INVITRO
Россия
Россия
125047, Москва, ул. 4-я Тверская-Ямская, 16, корп. 3
Список литературы
1. Schulze A., Lindner M., Kohlmüller D. et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111(6 Pt 1):1399–406. PMID: 12777559.
2. Garg U., Dasouki M. Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin Biochem 2006;39(4):315–32. doi: 10.1016/j.clinbiochem.2005.12.009.
3. Gelb M.H., Turecek F., Scott C.R., Chamoles N.A. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29(2–3):397–404. doi: 10.1007/s10545-006-0265-4.
4. Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348(23):2304–12. doi: 10.1056/NEJMoa025225.
5. Yu C.L., Gu X.F. Newborn screening of inherited metabolic disease by tandem mass spectrometry. Beijing Da Xue Xue Bao Yi Xue Ban 2006;38(1):103–6. PMID: 16415979.
6. Dooley K.C. Tandem mass spectrometry in the clinical chemistry laboratory. Clin Biochem 2003;36(6):471–81. PMID: 12951172.
7. Griffiths W.J. Tandem mass spectrometry in the study of fatty acids, bile acids, and steroids. Mass Spectrom Rev 2003;22(2):81–152. doi: 10.1002/mas.10046.
8. Carpenter K.H., Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 2002;322(1–2):1–10. PMID: 12104075.
9. Green A., Pollitt R.J. Population newborn screening for inherited metabolic disease: current UK perspectives. J Inherit Metab Dis 1999;22(4):572–9. PMID: 10407789.
10. la Marca G., Malvagia S., Pasquini E. et al. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem 2007;53(7):1364–9. doi: 10.1373/clinchem.2007.087775.
11. Janzen N., Terhardt M., Sander S. et al. Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry. Clin Chim Acta 2014;430:28–32. doi: 10.1016/j.cca.2013.12.020.
12. Zytkovicz T.H., Fitzgerald E.F., Marsden D. et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two year summary from the New England Newborn Screening Program. Clin Chem 2001;47(11):1945–55. PMID: 11673361.
13. Allard P., Grenier A., Korson M.S., Zytkovicz T.H. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 2004;37(11):1010–5. doi: 10.1016/j.clinbiochem.2004.07.006.
14. Chace D.H., Hillman S.L., Millington D.S. et al. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns’ blood spots by tandem mass spectrometry. Clin Chem1996;42(3):349–55. PMID: 8598094.
15. Chace D.H., Hillman S.L., Millington D.S. et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995;41(1):62–8. PMID: 7813082.
16. Smith W.E., Millington D.S., Koeberl D.D., Lesser P.S. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 2001;107(5):1184–7. PMID: 11331707.
17. Chace D.H., DiPerna J.C., Kalas T.A. et al. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 2001;47(11):2040–4. PMID: 11673377.
18. Kuhara T., Matsumoto I. Studies on the urinary acidic metabolites from three patients with methylmalonic aciduria. Biomed Mass Spectrom 1980;7(10):424–8. PMID: 6111361.
19. Wang H., Wang X., Li Y. et al. Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China. Biomed Chromatogr 2017;31(4). doi: 10.1002/bmc.3847.
20. Van Hove J.L., Zhang W., Kahler S.G. et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 1993;52(5):958–66. PMID: 8488845. PMCID: PMC1682046.
21. Koeberl D.D., Young S.P., Gregersen N. et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectroscopy newborn screening. Pediatr Res 2003;54(2):219–23. doi: 10.1203/01.PDR.0000074972.36356.89.
22. Matern D., Strauss A.W., Hillman S.L. et al. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res 1999;46(1):45–9. PMID: 10400133.
23. Abdenur J.E., Chamoles N.A., Guinle A.E. et al. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 1998;21(6):624–30. PMID: 9762597.
24. Chace D.H., Sherwin J.E., Hillman S.L. et al. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 1998;44(12):2405–9. PMID: 9836704.
25. Hampe M.H., Panaskar S.N., Yadav A.A., Ingale P.W. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. Clin Biochem 2017;50(3):121–6. doi: 10.1016/j.clinbiochem.2016.10.015.
26. Chen H., Yu C. Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS). Methods Mol Biol 2016;1378:281–90. doi: 10.1007/978-1-4939-3182-8_30.
27. Kubaski F., Mason R.W., Nakatomi A. et al. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. J Inherit Metab Dis 2017;40(1):151–8. doi: 10.1007/s10545-016-9981-6.
28. Sluiter W., van den Bosch J.C., Goudriaan D.A. et al. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem 2012;58(7):1139–47. doi: 10.1373/clinchem.2011.178319.
29. Dekker N., van Dussen L., Hollak C.E. et al. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011;118(16):e118–27. doi: 10.1182/blood-2011-05-352971.
30. Togawa T., Kodama T., Suzuki T. et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 2010;100(3):257–61. doi: 10.1016/j.ymgme.2010.03.020.
31. Polo G., Burlina A.P., Kolamunnage T.B. et al. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin Chem Lab Med 2017; 55(3):403–14. doi: 10.1515/cclm-2016-0340.
32. Liu Y., Yi F., Kumar A.B. et al. Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. Clin Chem 2017;63(6):1118–26. doi: 10.1373/clinchem.2016.269167.
33. Gan-Schreier H., Okun J.G., Kohlmueller D. et al. Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). J Mass Spectrom 2005;40(7):882–9. doi: 10.1002/jms.864.
34. John C., Werner P., Worthmann A. et al. A liquid chromatography-tandem mass spectrometry-based method for the simultaneous determination of hydroxy sterols and bile acids. J Chromatogr A 2014;1371:184–95. doi: 10.1016/j.chroma.2014.10.064.
35. Bootsma A.H., Overmars H., van Rooij A. et al. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis 1999;22(3):307–10. PMID: 10384393.
36. Wu C., Iwamoto T., Igarashi J. et al. Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab Rep 2017;12:115–8. doi: 10.1016/j.ymgmr.2017.06.004.
37. Hartmann S., Okun J.G., Schmidt C. et al. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem 2006;52(6):1127–37. doi: 10.1373/clinchem.2005.058842.
Рецензия
При поддержке: INVITRO, медицинская компания
Для цитирования:
Байдакова Г.В., Иванова Т.А., Захарова Е.Ю., Кокорина О.С. Роль тандемной масс-спектрометрии в диагностике наследственных болезней обмена веществ. Российский журнал детской гематологии и онкологии (РЖДГиО). 2018;5(3):96-105. https://doi.org/10.17650/2311-1267-2018-5-3-96-105
For citation:
Baydakova G.V., Ivanova T.A., Zakharova E.Yu., Kokorina O.S. The role of tandem mass spectrometry in the diagnosis of inherited metabolic diseases. Russian Journal of Pediatric Hematology and Oncology. 2018;5(3):96-105. (In Russ.) https://doi.org/10.17650/2311-1267-2018-5-3-96-105
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