Quantitative analytical method for the determination of biotinidase activity in dried blood spot samples
Author(s)
Szabo, E
Szatmari, I
Szonyi, L
Takats, Z
Type
Journal Article
Abstract
Biotinidase activity assay is included in most newborn screening protocols, and the positive results are confirmed by quantitative enzyme activity measurements. In our study, we describe a new quantitative analytical method for the determination of biotinidase activity using the blood sample deposited onto filter paper as the assay medium, by predepositing N-biotinyl-p-aminobenzoic acid onto the standard sample collection paper. The analysis of the assay mixture requires a simple extraction step from a dried blood spot followed by the quantification of product by LC-MS. The method provides a simple and reliable enzyme assay method that enables the rapid diagnosis of biotinidase deficiency (BD). Out of the measured 36 samples, 13 were healthy with lower enzyme activities, 16 were patients with partial BD, and 7 were patients with profound BD with residual activity below 10%. Expression of enzyme activity in percentage of mean activity of negative controls allows comparison of the different techniques. The obtained results are in good agreement with activity data determined from both dried blood spots and serum samples, giving an informative diagnostic value.
Date Issued
2015-09-23
Date Acceptance
2015-09-23
Citation
Analytical Chemistry, 2015, 87 (20), pp.10573-10578
ISSN
0003-2700
Publisher
American Chemical Society
Start Page
10573
End Page
10578
Journal / Book Title
Analytical Chemistry
Volume
87
Issue
20
Copyright Statement
© 2015 American Chemical Society. This document is the Accepted Manuscript version of a Published Work that appeared in final form in Analytical Chemistry, after peer review and technical editing by the publisher. To access the final edited and published work see https://dx.doi.org10.1021acs.analchem.5b02996
Subjects
Science & Technology
Physical Sciences
Chemistry, Analytical
Chemistry
DEFICIENCY
DIAGNOSIS
STABILITY
NEWBORNS
SERUM
ACYLCARNITINES
METABOLISM
SUBSTRATE
STORAGE
Adult
Biotinidase
Biotinidase Deficiency
Chromatography, High Pressure Liquid
Dried Blood Spot Testing
Enzyme Activation
Enzyme Assays
Healthy Volunteers
Humans
Infant, Newborn
Mass Spectrometry
Neonatal Screening
Analytical Chemistry
0301 Analytical Chemistry
0904 Chemical Engineering
0399 Other Chemical Sciences
Publication Status
Published