Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Wiltink, Rachel C; Kruijshaar, Michelle E.; Minkelen, Rick van; Onkenhout, W.; Verheijen, Frans W.; Kemper, Evelien A; Spronsen, Francjan J. van; Ploeg, Ans T. van der; Niezen-Koning, Klary E.; Saris, Jasper J.; Williams, Monique

doi:10.1038/ejhg.2016.65

Cited by 21 publications

(18 citation statements)

References 31 publications

(42 reference statements)

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“…Currently, BD is included in many National Neonatal Screening Programs, including the USA, Canada, the Netherlands and the United Arab Emirates [ 13 , 23 – 25 ], with the primary goal of identifying profound BD. Screening is performed through measurement of biotinidase activity in dried blood spot samples.…”

Section: Discussionmentioning

confidence: 99%

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

et al. 2017

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IntroductionThe association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity.MethodsAll exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed.ResultsMost individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients.ConclusionsThe variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.

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Section: Discussionmentioning

confidence: 99%

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

et al. 2017

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“…Common symptoms such as other types of skin rashes that arise during infancy and early childhood were frequently linked to partial BD by the family or even by other health personnel, which created unnecessary anxiety in the families despite good compliance. In line with the practices of some other western European screening programs [ 44 , 47 ], we chose to adjust the cut-off for biotin treatment from 30% to 20% biotinidase activity.…”

Section: Discussionmentioning

confidence: 99%

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

Tangeraas

Sæves

Klingenberg

et al. 2020

IJNS

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In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.

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“…[52][53][54] Currently, all newborn screening programs in the United States and more than 30 other countries screen for biotinidase deficiency, with multiple recent studies suggesting that additional countries are considering incorporation of biotinidase deficiency into their newborn screening programs. [55][56][57][58][59][60] Historically, the screening method used was a colorimetric assay of biotinidase activity measured in dried blood spots, and states have individually established their own screening cutoffs and rescreening or follow-up protocols. 50 Commercial kits based on fluorescence are now available, and at this time no data are available regarding the frequency of use of the different assays across the United States.…”

Section: Newborn Screening For Biotinidase Deficiencymentioning

confidence: 99%

“…56 The disease incidence varies between countries, with incidences in Brazil as high as 1 in 9,000 and possibly higher incidences in countries with a high degree of consanguinity, such as Turkey, Saudi Arabia, and the United Arab Emirates. 57,58,[67][68][69][70] Mode of inheritance Biotinidase deficiency is inherited as an autosomal recessive trait. 5 …”

Section: Incidencementioning

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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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Cited by 21 publications

References 31 publications

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

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

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