A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline

Wastell, H.; Dale, George L.; Bartlett, K.

doi:10.1016/0003-2697(84)90134-9

Cited by 54 publications

(28 citation statements)

References 8 publications

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“…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 There are other methods for determining biotinidase activity, such as measuring the release of biotin from biocytin, using other fluorescent biotinylated derivatives and radioisotopic biotinylated analogs, but they are more expensive, require more time, are difficult to perform, and often are not readily adaptable to enzymatic determinations using dried blood spots.…”

Section: Methodsmentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.

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Section: Methodsmentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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“…We developed a newborn screening assay to measure biotinidase activity using this artificial substrate in blood-soaked filter paper discs that are used in other newborn screening assays [5]. Not long after we identified biotinidase deficiency as the primary enzymatic defect using this substrate, Kim Bartlett published his assay for measuring biotinidase in serum using another artificial substrate, N-biotinyl-aminoquinoline [35,36]. In both cases, the artificial substrates were not commercially available.…”

Section: Spreading the Word About Biotinidase Deficiencymentioning

confidence: 99%

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

Wolf

2016

IJNS

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Abstract:Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes. Therefore, the disorder readily meets the major criteria for newborn screening. Our laboratory has been instrumental in developing, piloting and establishing newborn screening for the disorder in the United States and in many countries. This review discusses some of the "behind-the-scenes" aspects of how we spread the word about the disorder and what we learned from over 30 years of newborn screening. We also discuss some of the controversies and issues about biotinidase deficiency that remain to be addressed. Based on the successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening, this is one of the best, if not the best, disorder for which to perform newborn screening. In summary, "If an individual has to have an inherited metabolic disorder, biotinidase deficiency is the one to have."

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“…6 Biotinidase activity can also be determined fluorimetrically by measuring the release of aminoquinoline from biotinyl-6-aminoquinoline. 56 Other assays for biotinidase activity in serum and tissues measure the hydrolysis of biocytin or other biotinyl derivatives. 57,58 Individuals with profound biotinidase deficiency have lower than 10% mean normal serum enzyme activity.…”

Section: Determination Of Biotinidase Activity In Serum/plasmamentioning

confidence: 99%

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Wolf

2012

Genetics in Medicine

159

153

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A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline

Cited by 54 publications

References 8 publications

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

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