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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

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Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282


ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

Articoli con TAG: neonatal screening

Measurement of biotinidase activity using dried blood spots by a spectrophotometric assay
Assay for biotinidase activity.
<p>Introduction: biotinidase is required for biotin recycling; its deficiency results in loss of this coenzyme and, hence, the function of many critical enzymes. Delay in the diagnosis of biotinidase deficiency causes irreversible neurological damage; however, it is completely reversible and treatable if detected early. The aim of this study is to measure the activity of the biotinidase enzyme in dried blood specimens using a spectrophotometric technique.<br />Methods: dried blood specimens were collected from adults (n=81), neonates (n=50), as well as from a patient and his two siblings. A microplate-based enzyme kinetics assay was implemented to assess enzyme stability and activity using N-biotinyl-p-aminobenzoateas as a substrate.<br />Results: the enzyme was found to be stable for 28 days in dried blood spots stored at -20 &ordm;C. The assay was effective in measuring similar activities of biotinidase among healthy adults and neonates. On the other hand, no biotinidase activity was detected in the patient and low activity was measured in his two siblings.<br />Conclusion: the assay provides a cost-effective method for the early detection of biotinidase deficiency.</p>
Biochimica Clinica ; 17(1)
Contributi Scientifici - Scientific Papers