Literature DB >> 35398329

Biotinidase activity is affected by both seasonal temperature and filter collection cards.

Matthew P A Henderson1, Nathan McIntosh2, Amy Chambers2, Emily Desormeaux2, Michael Kowalski2, Jennifer Milburn2, Pranesh Chakraborty3.   

Abstract

This study set out to examine pre-analytical factors affecting the frequency of positive results in newborn screening for biotinidase deficiency. This investigation was prompted by an increase in the annual screen positive rate for biotinidase deficiency in Ontario from 2.65x10-4 in 2016 to 6.57x10-4 in 2017. Season and trend decomposition was used to separate seasonality from an underlying trend in the time series of biotindase activity measurements for the period 2014-01-12 to 2019-07-27 (n = 798,770). This analysis revealed a marked seasonal effect (winter = median + ⩽ 17 MRU, summer = mean - ⩽20 MRU) and a non-linear negative trend. Seasonal temperature was correlated with biotinidase results (Pearson's r = 0.79) but not with the observed negative trend (Pearson's r = 0.0025). Time series analysis of biotinidase results grouped by print lot of filter paper revealed that recently printed filter paper cards inhibit biotinidase and that this inhibition resolved over time. This study demonstrates that biotindase activity is inhibited by both increased seasonal temperature and collection on newly printed filter cards.
Copyright © 2022. Published by Elsevier Inc.

Entities:  

Keywords:  Biotinidase deficiency; Dried blood spots; Enzyme activity; Filter paper; Newborn screening; Seasonal variation

Year:  2022        PMID: 35398329     DOI: 10.1016/j.clinbiochem.2022.03.010

Source DB:  PubMed          Journal:  Clin Biochem        ISSN: 0009-9120            Impact factor:   3.281


  1 in total

1.  High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

Authors:  Daniela Semeraro; Sara Verrocchio; Giulia Di Dalmazi; Claudia Rossi; Damiana Pieragostino; Ilaria Cicalini; Rossella Ferrante; Silvia Di Michele; Liborio Stuppia; Cristiano Rizzo; Francesca Romana Lepri; Antonio Novelli; Carlo Dionisi-Vici; Vincenzo De Laurenzi; Ines Bucci
Journal:  Int J Environ Res Public Health       Date:  2022-07-02       Impact factor: 4.614

  1 in total

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