Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method
Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method
Aim: A variety of methods are used to determine biotinidase activity (BA), such as different substrates, biological samples, andanalytical techniques. In this study, we aimed to discuss the specificity and sensitivity of the fluorometric method used in themeasurement of biotinidase activity in the newborn screening program (NSP) in Turkey.Material and Methods: Medical records of 164 patients who were referred to our clinic with the diagnosis of biotinidase deficiency(BD) from primary health care institutions were evaluated retrospectively. According to this classification, those with normal BA wereincluded in the negative group and those with partial or profound BD were included in the positive group.Results: Four patients had profound and 66 patients had partial BD, whereas 94 patients had normal BA. ROC analysis was performedto determine the specificity and sensitivity of BA from dry blood spot. Analysis showed 41% sensitivity and 39% specificity forBA≥56.91 MRU (AUC: 0.339, p
___
- 1. Baumgartner MR, Suormala T. Biotin-responsive Disorders. In: Saudubray, J. M, Van den Berghe, G. and Walter J. editor. Inborn metabolic diseases: diagnosis and treatment 6th edition. New York: Springer 2016;375-83.
- 2. Strovel ET, Cowan TM, Scott AI, et al. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guide’ün line of the American College of Medical Genetics and Genomics. Genet Med 2018;20:282.
- 3. Zempleni J, Hassan YI, Wijeratne SS. Biotin and biotinidase deficiency. Expert Rev Endocrinol Metab 2008;3:715-24.
- 4. Patel DP, Swink SM, Castelo-Soccio L. A review of the use of biotin for hair loss. Skin Appendage Disord 2017;3:166-9.
- 5. Kuroishi T. Regulation of immunological and inflammatory functions by biotin. Can J Physiol Pharmacol 2015;93:1091-6.
- 6. Liu XM, Li R, Chen SZ, et al. Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms. Cell Biochem Biophys 2015;72:61-5.
- 7. Wolf B. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. Mult Scler Relat Disord 2019;28:26- 30.
- 8. Schiergens KA, Staudigl M, Borggraefe I, et al. Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated. Neuropediatrics 2018;49:363-8.
- 9. Porta F, Pagliardini V, Celestino I, et al.Neonatal screening for biotinidase deficiency:A 30-year single center experience.Mol Genet Metab Rep 2017;13:80- 2.
- 10. Wolf B. Biotinidase deficiency masquerading as multiple sclerosis? Mult Scler 2018;24:237-8.
- 11. Wiltink RC, Kruijshaar ME, van Minkelen R, et al. Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. Eur J Hum Genet 2016;24:1424-9.
- 12. Szabó E, Szatmári I, Szőnyi L, et al. Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples. Anal Chem 2015;87:10573-8.
- 13. Ohlsson A, Guthenberg C, Holme E, et al. Profound biotinidase deficiency: a rare disease among native Swedes. J Inherit Metab Dis 2010;33:175-80.
- 14. Tezel B, Dilli D, Bolat H, et al. The development and organization of newborn screening programs in Turkey. J Clin Lab Anal.2014;28:63-9.
- 15. Wagner M, Tonoli D, Varesio E, et al. The use of mass spectrometry to analyze dried blood spots. Mass Spectrom Rev 2016;35:361-43
- 16. Smon A, Repic Lampret B, Groselj U, et al. Next generation sequencing as a follow-up test in an expanded newborn screening programme. Clin Biochem 2018;52:48-55.
- 17. Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171-87.
- 18. Republic of Turkey Ministry of Health, Public Health Agency of Turkey, Child and Adolescent Health Department. Accessed on:12 November2018https://dosyaism.saglik.gov.tr/ Eklenti/11173,259822214447pdf.pdf?0
- 19. Yilmaz S, Serin M, Canda E, et al. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. Metab Brain Dis 2017;32:675-8
- 20. Karaca M, Özgül RK, Ünal Ö, et al. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. Eur J Pediatr 2015;174:1077-84.
- 21. Baykal T, Hüner G, Sarbat G, et al. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr 1998;87:1102-3.
- 22. Uslu HS Sinan, Zübarioğlu A, Bülbül A. Neonatoloji perspektifinden selektif metabolik tarama testleri. JAREM 2015;5:39-46.
- 23. Mohamed S, El Melegy EM, Talaat I, et al. Neurometabolic disorders-related early childhood epilepsy: a single-center experience in saudi arabia. Pediatr Neonatol 2015;56:393-401.
- 24. Vela-Amieva M, Ibarra-González I, Fernández-Lainez C, et al. Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico. J Med Screen 2011;18:115–20.
- 25. Gannavarapu S, Prasad C, DiRaimo J, et al. Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). Mol Genet Metab 2015;116:146- 51.
- 26. Heidari A, Arab M, Etemad K, et al. Challenges of implementation of the national phenylketonuria screening program in iran: a qualitative study. Electron Physician 2016;8:3048-56.
- 27. Işeri-Erten SÖ, Dikmen ZG, Ulusu NN. Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. J Med Biochem 2016;35:123-9.