ORIGINAL RESEARCH
Determining the diagnostic value of the markers of congenital metabolic disorders by chromatography–mass spectrometry
1 Voino-Yasenetsky Scientific and Practical Center for Specialized Assistance to Children, Moscow, Russia
2 LLC Clinic of New Medical Technologies “ArchiMed”, Moscow, Russia
3 Research Center of Neurology, Moscow, Russia
Correspondence should be addressed: Irina V. Zolkina
Vavilova, 68, k. 2, Moscow, 119261, Russia; ur.liam@ari_anikloz
Author contribution: Mamedov IS — research idea; Mamedov IS, Zolkina IV — research methods and procedure, statistical data processing; Zolkina IV — manustript writing; Mamedov IS, Sukhorukov VS, Zolkina IV, Krapivkin AI — manuscript editing; Krapivkin AI — research management.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Pirogov Russian National Research Medical University (protocol № 94 dated 14 December 2009). All parents or caregivers of the subjects submitted the informed consent to participation in the study.
- Colby JM, Thoren KL. Applications of mass spectrometry in the clinical laboratory. In: Clarke W, Marzinke MA. Contemporary Practice in Clinical Chemistry (Fourth Edition). Academic press; 2020, p. 351–63. DOI: 10.1016/B978-0-12-815499-1.00021-1.
- Kilgore MB, Platis D, Lim T, Isenberg S, Pickens CA, Cuthbert C, et al. Development of a universal second-tier newborn screening LC–MS/MS Method for amino acids, lysophosphatidylcholines, and organic acids. Analytical Chemistry. 2023; 95 (6): 3187–94. DOI: 10.1021/acs.analchem.2c03098.
- Percenti L, Vickery GNC. Newborn Screening Follow-up. Med J. 2019; 80 (1): 37–414. DOI: 10.18043/ncm.80.1.37.
- Chace DH, Kalas T, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003: 49 (11): 1797–817. DOI: 10.1373/clinchem.2003.022178.
- Mueller P, Schulze A, Schindler I. Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults. Clin Chim Acta. 2003; 327: 47–57. DOI: 10.1016/S0009-8981(02)00327-3.
- Rashed MS. Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. J Chrom. 2001; 758 (1): 27–48. DOI: 10.1016/s0378-4347(01)00100-1.
- Zoppa M, Gallo L, Zacchello F, Giordano G. Method for the quantification of underivatized amino acids on dry blood spots from newborn screening by HPLC-ESI-MS/MS. J Chromatogr. 2006; 831 (1–2): 267–73. DOI: 10.1016/j.jchromb.2005.12.015.
- Wong HB, Lim GS. Measures of diagnostic accuracy: sensitivity, specificity, PPV and NPV. Proceedings of Singapore Healthcare. 2011: 20 (4): 316–8. DOI: 10.1177/201010581102000411.
- Thomas LA. New era predicted for LC-MS in the clinical lab. Clinical OMICs. 2016; 3 (9): 12–15.
- Mamedov IS, Perevezencev OA, Zolkina IV, Vedenin AI, Moskaleva NE, Suhorukov VS, i dr. Bystraja diagnostika nasledstvennyh boleznej obmena veshhestv u detej. Vestnik Rossijskogo gosudarstvennogo medicinskogo universiteta. 2010; (3): 57–61. Russian.
- Mamedov IS, Zolkina IV, Suhorukov VS. Diagnostika nasledstvennyh boleznej metabolizma u detej. Klinicheskaja laboratornaja diagnostika. 2011; 10: 20–21. Russian.
- Mamedov IS, Suhorukov VS, Zolkina IV, Savina MI, Nikolaeva EA. Ocenka mass-spektrometricheskih pokazatelej dlja differencial'noj diagnostiki nasledstvennyh narushenij obmena organicheskih kislot u detej. Rossijskij vestnik perinatologii i pediatrii. 2019; 64 (1): 61–67. Russian.
- Baranova PV. Organicheskie acidurii: osnovnye principy analiza organicheskih kislot metodom gazovoj hromatografii s massspektrometriej: uchebno-metodicheskoe posobie. M.: Triumf, 2023; 80 s. Russian.
- Hananeh T, Solaleh E, Shaghayegh H, Babak A, Negar R, Arezou D-M. The association between acylcarnitine and amino acids profile and metabolic syndrome and its components in Iranian adults. Frontiers in Endocrinology. 2023 [cited 2023 Nov 29]; 14: [10 p.]. Available from: https://www.frontiersin.org/articles/10.3389/fendo.2023.1058952/full DOI: 10.3389/fendo.2023.1058952.
- Gunther SH, Khoo CM, Tai E-S, et al. Serum acylcarnitines and amino acids and risk of type 2 diabetes in a multiethnic Asian population. BMJ Open Diab Res Care. 2020 [cited 2023 Nov 29]; 8: e001315 [10 p.]. Available from: https://drc.bmj.com/content/bmjdrc/8/1/e001315.full.pdf DOI: 10.1136/bmjdrc-2020-001315.