Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

Neto, Eurico Camargo; Schulte, Joann; Rubim, R; Lewis, Erin D.; DeMari, Joseph; Castilhos, Cristina Dickie de; Brites, Ana Luísa; Giugliani, Roberto; Jensen, Kevin P.; Wolf, Barry

doi:10.1590/s0100-879x2004000300001

Cited by 48 publications

(51 citation statements)

References 10 publications

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“…A study in the State of Paraná (South) showed a combined prevalence of BD of 1:62,500 live births and 1:125,000 for partial BD (Pinto et al 1998). The highest incidence (1:9,000) was reported by a private laboratory study (Neto et al 2004) that reported the results from samples received from several Brazilian regions. The authors recognized several problems with the samples received for the serum quantitative tests.…”

Section: Discussionmentioning

confidence: 91%

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

et al. 2015

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Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil.Methods: A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method. Colorimetricpositive cases were further tested with a serum confirmatory assay. Gene sequencing was performed for eight children suspected with biotinidase deficiency and for some of their parents. Positive cases were daily supplemented with oral biotin and were followed up for approximately six years.

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Section: Discussionmentioning

confidence: 91%

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

et al. 2015

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“…2 Several studies have shown that early detected cases under treatment remain asymptomatic. [6][7][8][9][10][11][12][13] Cases detected after the onset of clinical symptoms improve after treatment with biotin, but some features are irreversible.…”

Section: What This Study Addsmentioning

confidence: 99%

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

et al. 2015

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BACKGROUND AND OBJECTIVES: There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS:We used information from the regional NBS program for BD that has been in place in the Spanish region of Galicia since 1987. These data, along with other sources, were used to develop a cost-effectiveness decision model that compared lifetime costs and health outcomes of a national birth cohort of newborns with and without an early detection program. The analysis took the perspective of the Spanish National Health Service. Effectiveness was measured in terms of quality-adjusted life years (QALYs). We undertook extensive sensitivity analyses around the main model assumptions, including a probabilistic sensitivity analysis. RESULTS:In the base case analysis, NBS for BD led to higher QALYs and higher health care costs, with an estimated incremental cost per QALY gained of $24 677. Lower costs per QALY gained were found when conservative assumptions were relaxed, yielding cost savings in some scenarios. The probability that BD screening was cost-effective was estimated to be .70% in the base case at a standard threshold value.CONCLUSIONS: This study indicates that NBS for BD is likely to be a cost-effective use of resources. WHAT'S KNOWN ON THIS SUBJECT:Biotinidase deficiency (BD) might cause severe and permanent consequences. Cases detected through newborn screening and under treatment are shown to remain asymptomatic. However, some countries, including Spain, do not provide universal BD screening within their national newborn screening programs. WHAT THIS STUDY ADDS:It provides a first estimate of the lifetime costs and health outcomes of a Spanish birth cohort with and without neonatal screening for BD. It shows that newborn screening for BD is likely to be a costeffective use of resources. Dr Vallejo-Torres participated in the concept and design of the study and in the collection, analysis, and interpretation of data and drafted and revised the manuscript; Dr Castilla participated in the design of the study and in the collection and interpretation of data and revised the manuscript; Drs Couce, Pérez-Cerdá, Martín-Hernández, Pineda, and Campistol participated in the concept and design of the study and in the collection and interpretation of data and revised the manuscript; Ms Arrospide and Dr Morris participated in the concept and design of the study and in the analysis and interpretation of data and revised the manuscript; Dr Serrano-Aguilar coordinated the research team and critically reviewed the manuscript; and all authors approved the final manuscript as submitted. In Spain, only 2 regions (Galicia, since 1987, and Murcia, since 2007) include BD in their regional newborn screening (NBS) programs. Currently, the Spanish Ministry of Health, Social Servi...

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“…Particularly, it is estimated to be approximately 1:3791 births, resembling the ones observed in Brazil and Turkey. 5,17 It is also worth noting the fact that a large proportion of our 'positive' samples (26 of 69) are found to be merely carriers of a pathogenic mutation associated either to profound or to partial BTD deficiency in both cohorts of our study. The potential of the molecular testing to differentiate the condition of partial deficiency from the carrier status is therefore confirmed.…”

Section: Mutational Analysismentioning

confidence: 68%

Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening

Thodi¹,

Molou²,

Georgiou³

et al. 2011

J Hum Genet

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Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scattered throughout its coding region have been detected in patients ascertained either through newborn screening or clinically. From March 2010 up to June 2011, 18 954 Greek neonates were subjected to biochemical determination of BTD activity through a semiquantitative fluoroimmunoassay. Subsequently, the first cohort of our 'suspected' samples was further tested for the presence of aberrations associated either with partial or profound BTD deficiency through sequencing of the coding region of the BTD gene, including splice-site junctions. On the basis of the molecular data derived from the study of our first cohort of 'suspected' samples, a panel of four mutations, most frequently encountered in the Greek population, was created, and a rapid, reliable and cost-effective real-time-based genotyping assay for the detection of these mutations was developed. This is the first report about the BTD mutational spectrum in Greece, and it could be a beneficial utility in the differential clinical diagnosis of BTD deficiency.

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Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

Cited by 48 publications

References 10 publications

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening

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