Related Experiment Video
Updated: Oct 5, 2025
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in
Afshan Bibi1, Zujaja Hina Haroon1, Amna Shujaat1
1Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
Objective:
To determine the reference interval of biotinidase activity in healthy neonates.
Methods:
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 filter paper and analysed on genetic screening processor based on dissociation-enhanced lanthanide flouroimmunoassay. 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.
Conclusions:
Screening of newborns for biotinidase deficiency is crucial to prevent irreversible neurological damage.
Related Concept Videos
01:35Pedigree Analysis
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism