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Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan

Author(s)
Afshan Bibi Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Zujaja Hina Haroon Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Amna Shujaat Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Muhammad Aamir Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Sobia Irum Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Syed Raza Jaffar Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan
Abstract
Objective: To determine the reference interval of biotinidase activity in healthy neonates. Method: The cross-sectional study was conducted at the Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from May to November 2019, and comprised blood samples collected from healthy neonates aged 2-6 days. The samples were collected on fi lter paper and analysed on genetic screening processor based on dissociation-enhanced lanthanide fl ouroimmunoassay. Data was analysed using SPSS 21. Results: Of the 120 dried blood spot specimens, 81(67.5%) were from male babies and 39(32.5%) from female babies. Reference interval for biotinidase activity, based on 2.5th and 97.5th percentiles, was from 3.0 to 11.0 nmol/ml/min. Conclusion: Screening of newborns for biotinidase defi ciency is crucial to prevent irreversible neurological damage.
Publication Details
Page(s) 97-100
DOI 10.47391/JPMA.2167
Published Journal: Journal of Pakistan Medical Association, Volume: 72, Issue: 1, Year: 2022

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Keywords
Biotinidase reference interval, Biotinidase deficiency, Newborn screening in Pakistan
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