Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases

Lawler, Michael G.; Frederick, Deborah L.; Rodriguez-Anza, Susana; Wolf, Barry; Levy, Harvey L.

doi:10.1016/0925-6164(92)90028-4

Cited by 10 publications

(3 citation statements)

References 16 publications

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“…Thus, the incidence found in the current study was higher than that observed worldwide and in many countries. Nevertheless, pilot newborn screening Wolf et al (2005) studies in isolated regions or selected groups have disclosed higher incidences (1:4,500 to 1:14,000) than that reported in the present research (Thodi et al 2013;Dunkel et al 1989;Lawler et al 1992;Sarafoglou et al 2009). In Brazil, the available prevalence rates are divergent.…”

Section: Discussioncontrasting

confidence: 74%

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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confidence: 74%

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

et al. 2015

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“…Nevertheless, pilot newborn screening Wild (?) ¼ coding and splicing regions of BTD gene corresponded to the wild sequence, but promoter and intronic regions were not completely sequenced a Newly described mutation predicted to affect protein function (see text) b Newly described mutation predicted not to affect protein function (see text) c A silent variant [c.1284C>T (Y428Y)] was also detected together with the pathogenic variant p.P497S, as reported by Wolf et al (2005) studies in isolated regions or selected groups have disclosed higher incidences (1:4,500 to 1:14,000) than that reported in the present research (Thodi et al 2013;Dunkel et al 1989;Lawler et al 1992;Sarafoglou et al 2009). In Brazil, the available prevalence rates are divergent.…”

Section: Discussionsupporting

confidence: 49%

JIMD Reports, Volume 24

Zschocke¹,

Baumgartner²,

Morava³

et al. 2015

JIMD Reports

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“…The early detection of the disease and administration of pharmacological doses of biotin are necessary to prevent physical and neurological abnormalities of affected infants; therefore, many countries include BD in their newborn screening program. 11 Due to the yet incomplete screening in a variety of countries, only rough estimates of incidence data are available, ranging from 1:33,000 to 1:500,000 9 for profound biotinidase deficiency (0−10% of the mean normal activity) and from 1:14,000 12 to 1:129,000 13 for partial deficiency (10−30% activity). For BD patient stratification, quantitative enzyme activity measurements are necessary.…”

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confidence: 99%

Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples

et al. 2015

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Biotinidase activity assay is included in most newborn screening protocols, and the positive results are confirmed by quantitative enzyme activity measurements. In our study, we describe a new quantitative analytical method for the determination of biotinidase activity using the blood sample deposited onto filter paper as the assay medium, by predepositing N-biotinyl-p-aminobenzoic acid onto the standard sample collection paper. The analysis of the assay mixture requires a simple extraction step from a dried blood spot followed by the quantification of product by LC-MS. The method provides a simple and reliable enzyme assay method that enables the rapid diagnosis of biotinidase deficiency (BD). Out of the measured 36 samples, 13 were healthy with lower enzyme activities, 16 were patients with partial BD, and 7 were patients with profound BD with residual activity below 10%. Expression of enzyme activity in percentage of mean activity of negative controls allows comparison of the different techniques. The obtained results are in good agreement with activity data determined from both dried blood spots and serum samples, giving an informative diagnostic value.

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Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases

Cited by 10 publications

References 16 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

JIMD Reports, Volume 24

Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples

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