Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency

İşeri-Erten, Sevgin Özlem; Dikmen, Z. Günnur; Ulusu, Nuriye Nuray

doi:10.1515/jomb-2016-0004

Cited by 16 publications

(9 citation statements)

References 36 publications

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“…62 A published comparison suggests that the fluorescence method using biotinyl-6-aminoquinoline as the substrate was slightly more specific and sensitive than the colorimetric assay. 63 Further studies are warranted to compare the various methods used for newborn screening.…”

Section: Newborn Screening For Biotinidase Deficiencymentioning

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: Newborn Screening For Biotinidase Deficiencymentioning

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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“…Swiss NBS introduced BTD deficiency screening in 1987. The BTD enzyme activity in dried blood spots (DBS) was determined semi‐quantitatively using different colorimetric or fluorometric assays 14,15 . Acylcarnitines are not considered for the NBS of BTD deficiency.…”

Section: Methodsmentioning

confidence: 99%

“…The BTD enzyme activity in dried blood spots (DBS) was determined semi-quantitatively using different colorimetric or fluorometric assays. 14,15 Acylcarnitines are not considered for the NBS of BTD deficiency. During the course of the presented study, the kits from PerkinElmer Inc. and Labsystems Diagnostics Oy have been used, which are utilizing as artificial BTD substrates europium-labeled biotin (GSP Neonatal biotinidase Kit, PerkinElmer) and biotinyl-6-aminoquinoline (Neonatal biotinidase kit, Labsystems Diagnostics Oy), respectively.…”

Section: Btd Enzyme Activity In Dried Blood Spotmentioning

confidence: 99%

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Forny

Wicht

Rüfenacht

et al. 2022

J of Inher Metab Disea

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Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmacological doses of biotin, justifying the inclusion of this disorder in the newborn screening in numerous countries. We investigated the BTD deficiency cohort (N = 87) in our metabolic center, as it was detected upon newborn screening since 2005, and aimed to better understand the long‐term course of BTD enzyme activity and how it may relate to the patients' genetic background. We observed that individuals with partial BTD deficiency display an elevation of BTD enzyme activity with increasing age in 48% of cases—a recovery which allowed adjustment or stop of biotin supplementation in 20% of all individuals. In addition, we were able to recruit 56 patients (64%) for genetic testing, revealing 19 different variants (2 novel), and constituting 22 different genotypes. Genotype–phenotype correlations revealed that the most abundant allele in our cohort p.(Asp444His) was also the most common variant in patients displaying recovery of BTD enzyme activity. Based on our results, we recommend to retest all patients with partial BTD deficiency at the age of 5 years, as this may result in an impact on therapy. Moreover, genetic testing of BTD deficient individuals can allow prediction of the severity of BTD deficiency and of the likelihood of BTD enzyme activity recovery with age.

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“…Recently, a study indicated that the fluorimetric assay was slightly more sensitive to the colorimetric assay in identifying the deficiency [71]. However, the disparity would likely be in identifying partially deficient versus those with normal activity.…”

Section: What Questions About Biotinidase Deficiency and Its Newborn mentioning

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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Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency

Cited by 16 publications

References 36 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

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

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

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