nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.17650/2311-1267-2018-5-3-96-105nodgo-412Research ArticleВОПРОСЫ ПРАКТИЧЕСКОЙ ГЕМАТОЛОГИИ-ОНКОЛОГИИQUESTIONS OF PRACTICAL HEMATOLOGY/ONCOLOGYРоль тандемной масс-спектрометрии в диагностике наследственных болезней обмена веществThe role of tandem mass spectrometry in the diagnosis of inherited metabolic diseasesБайдаковаГ. В.BaydakovaG. V.

Галина Викторовна Байдакова.

1 Moskvorech’e St., Moscow, 115522

labnbo@yandex.ruИвановаТ. А.IvanovaT. A.

115522, Москва, ул. Москворечье, 1

1 Moskvorech’e St., Moscow, 115522

ЗахароваЕ. Ю.ZakharovaE. Yu.

115522, Москва, ул. Москворечье, 1

1 Moskvorech’e St., Moscow, 115522

КокоринаО. С.KokorinaO. S.

125047, Москва, ул. 4-я Тверская-Ямская, 16, корп. 3

Bldg. 3, 16 4th Tverskaya-Yamskaya St., Moscow, 125047

ФГБНУ Медико-генетический научный центрРоссияResearch Centre for Medical GeneticsRussian FederationМедицинская компания INVITROРоссияMedical company INVITRORussian Federation2018160920185396105Copyright © Байдакова Г.В., Иванова Т.А., Захарова Е.Ю., Кокорина О.С., 20182018Байдакова Г.В., Иванова Т.А., Захарова Е.Ю., Кокорина О.С.Baydakova G.V., Ivanova T.A., Zakharova E.Y., Kokorina O.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/412

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.

This paper reviews the clinical applications of tandem mass spectrometry in diagnosis and screening for inherited metabolic diseases. The broad-spectrum of diseases covered, specificity, ease of sample preparation, and high throughput provided by the MS/MS technology has led to the development of multi-disorder newborn screening programs in many countries for amino acid disorders, organic acidurias, and fatty acid oxidation defects. The application of MS/MS in selective screening has revolutionized the field and made a major impact on the detection of certain disease classes such as the fatty acid oxidation defects. New specific and rapid tandem mass spectrometry (MS/MS) and high performance liquid chromatography–MS/MS methods are supplementing or replacing some of the classical gas chromatography– MS/MS methods for a multitude of metabolites and disorders. In the near future, we should expect the emergence of new promising methods for diagnosing not only individual nosologic forms, but also entire groups of inherited metabolic diseases.

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The authors declare that there are no conflicts of interest present.