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Dergiler / Annals of Medical Research / 2019 / Cilt: 26 - Sayı: 10

Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method

Nurgül ATAŞ
Meryem KARACA
Halil KAZANASMAZ
Sayfa
2306–2311
Yayın Tarihi
2022-10-12
DOI
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Analysis showed 41% sensitivity and 39% specificity forBA≥56.91 MRU (AUC: 0.339, p

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Aim: A variety of methods are used to determine biotinidase activity (BA), such as different substrates, biological samples, andanalytical techniques.
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Temel Bulgular & Veri: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.
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Sonuç & Katkı:Analysis showed 41% sensitivity and 39% specificity forBA≥56.91 MRU (AUC: 0.339, p
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

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

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Bu Makaleye Atıf Yap

ATAŞ, N., KARACA, M., KAZANASMAZ, H. (2022). Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method. Annals of Medical Research, Cilt: 26 - Sayı: 10, 2306–2311. https://ajindex.com/articles/447304

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Kaynakça (15)

  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 progra