Increased incidence of profound biotinidase deficiency among Hispanic newborns in California

Cowan, Tina M.; Kazerouni, N. Neely; Dharajiya, Nilesh; Lorey, Fred; Roberson, Marie; Hodgkinson, C. Paul; Schrijver, Iris

doi:10.1016/j.ymgme.2012.05.017

Cited by 12 publications

(12 citation statements)

References 10 publications

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“…17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf. The large difference between the worldwide survey and the incidence found in our study and others 16,[20][21][22][23][24][25][26][27][28] is likely due to considerable variation in the occurrence of this disorder across countries. Therefore, it is important for each country to study the incidence of biotinidase deficiency.…”

Section: Discussioncontrasting

confidence: 80%

“…17 More recent publications, however, indicate that the incidence of biotinidase deficiency ranges from 1:4500 to 1:62 500 in countries that screen for this disorder (eg, Brazil, the USA, Belgium, Germany and Greece). 16,[20][21][22][23][24][25][26][27][28] Our study shows that, in the Netherlands, 1 in 6100 to 1 in 8200 neonates had partial or profound biotinidase deficiency. 17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf.…”

Section: Discussionmentioning

confidence: 53%

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

et al. 2016

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Section: Discussioncontrasting

confidence: 80%

Section: Discussionmentioning

confidence: 53%

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

et al. 2016

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“…The D543E mutation has been previously assigned as pathogenic when compounded with p.Q456H or c.587delC in two Hispanic children (Cowan et al 2012), both with profound BD. At the UTAH BTD Database (2013), it was compounded with p.D444H and resulted in a biotinidase activity level of 2.4 nmol/min/mL.…”

Section: Discussionmentioning

confidence: 99%

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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“…Previously, an analysis of screening data reported by the California NBS program revealed a disproportionately high frequency of Hispanic newborns testing positive for MMA, a trend seen for both true- and false-positive cases [5]. While the birth prevalence for specific disorders is known to vary among different racial/ethnic groups [6,7], identifying a higher number of MMA false-positive cases with Hispanic ethnicity was unexpected. Here we assess the hypothesis that Hispanic newborns have inherently higher C3 or C3/C2 levels, which could directly increase the number of MMA false-positive cases in this group.…”

Section: Introductionmentioning

confidence: 99%

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

Peng

Fontnouvelle

Enns

et al. 2019

Molecular Genetics and Metabolism

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Analysis of California newborn screening (NBS) data revealed a high prevalence of Hispanic infants testing positive for methylmalonic acidemia (MMA), a trend seen for both true- and false-positive cases. Here we show that Hispanic infants have significantly higher levels of MMA screening markers than non-Hispanics. Preterm birth and increased birth weight were found to be associated with elevated MMA marker levels but could not entirely explain these differences. While the preterm birth rate was higher in Blacks than Hispanics, Black infants had on average the lowest MMA marker levels. Preterm birth was associated with lower birth weight and increased MMA marker levels suggesting that gestational age is the stronger predictive covariate compared to birth weight. These findings could help explain why MMA false-positive results are more likely in Hispanic than in Black infants, which could inform screening and diagnostic procedures for MMA and potentially other disorders in newborns.

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Increased incidence of profound biotinidase deficiency among Hispanic newborns in California

Cited by 12 publications

References 10 publications

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

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

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

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

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