A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline
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Cited by (44)
Inherited biotin-responsive disorders
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1Methods for assessment of biotin (vitamin B<inf>7</inf>)
2018, Laboratory Assessment of Vitamin StatusLaboratory diagnosis of biotinidase deficiency, 2017 update: A technical standard and guideline of the American College of Medical Genetics and Genomics
2017, Genetics in MedicineCitation Excerpt :This method also forms the basis for newborn screening for biotinidase deficiency, and has been adapted for use with microtiter plates.50,76 Biotinidase activity can also be measured using a fluorescent technique with biotinyl-6-aminoquinoline as an artificial substrate.77 This substrate is more expensive than that for the colorimetric method, but has also been adapted to newborn screening and the testing of dried blood spots.78
Why screen newborns for profound and partial biotinidase deficiency?
2015, Molecular Genetics and MetabolismDisorders of Biotin Metabolism
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth EditionNovel application of digital microfluidics for the detection of biotinidase deficiency in newborns
2013, Clinical BiochemistryCitation Excerpt :Early diagnosis and a straightforward treatment with pharmacological biotin can thereby provide newborns with a positive health outcome. Assays for biotinidase deficiency were originally described in the 1980s, and newborn bloodspot screening for biotinidase deficiency is routinely performed using either colorimetric [2,3] or fluorometric [4] enzymatic assays. Screening for biotinidase deficiency is now universally and fully implemented in all U.S. states, although many states still perform manual assays [5].