Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2016

AUTHORS

Friederike Hörster , Stefan Kölker , J. Gerard Loeber , Martina C. Cornel , Georg F. Hoffmann , Peter Burgard

ABSTRACT

BACKGROUND: The state of newborn screening (NBS) programmes for organic acidurias in Europe was assessed by a web-based questionnaire in the EU programme of Community Action in Public Health 2010/2011 among the - at that time - 27 EU member states, candidate countries, potential candidates and three EFTA countries. RESULTS: Thirty-seven data sets from 39 target countries were analysed. Newborn screening for glutaric aciduria type I (GA-I) was performed in ten, for isovaleric aciduria (IVA) in nine and for methylmalonic aciduria including cblA, cblB, cblC and cblD (MMACBL) as well as for propionic aciduria (PA) in seven countries. Samples were obtained at a median age of 2.5 days and laboratory analysis began at median age of 4.5 days. Positive screening results were mostly confirmed in specialised centres by analysis of organic acids in urine. Confirmation of a positive screening result usually did not start before the second week of life (median ages: 9.5 days [IVA], 9 days [GA-I], 8.5 days [PA, MMACBL]) and was completed early in the third week of life (median ages: 15 days [IVA, PA, MMA], 14.5 days [GA-I]). Treatment was initiated in GA-I and IVA at a median age of 14 days and in MMACBL and PA at a median age of 15 days. CONCLUSION: NBS for organic acidurias in Europe is variable and less often established than for amino acid disorders. While for GA-I its benefit has already been demonstrated, there is room for debate of NBS for IVA and especially PA and MMACBL. More... »

PAGES

105-115

References to SciGraph publications

  • 2012-12. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia in ORPHANET JOURNAL OF RARE DISEASES
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  • 2012-01. Propionic acidemia: neonatal versus selective metabolic screening in JOURNAL OF INHERITED METABOLIC DISEASE
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  • 2006-04. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry in JOURNAL OF INHERITED METABOLIC DISEASE
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  • Book

    TITLE

    JIMD Reports, Volume 32

    ISBN

    978-3-662-54384-9
    978-3-662-54385-6

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/8904_2016_537

    DOI

    http://dx.doi.org/10.1007/8904_2016_537

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27344647


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    31 schema:description BACKGROUND: The state of newborn screening (NBS) programmes for organic acidurias in Europe was assessed by a web-based questionnaire in the EU programme of Community Action in Public Health 2010/2011 among the - at that time - 27 EU member states, candidate countries, potential candidates and three EFTA countries. RESULTS: Thirty-seven data sets from 39 target countries were analysed. Newborn screening for glutaric aciduria type I (GA-I) was performed in ten, for isovaleric aciduria (IVA) in nine and for methylmalonic aciduria including cblA, cblB, cblC and cblD (MMACBL) as well as for propionic aciduria (PA) in seven countries. Samples were obtained at a median age of 2.5 days and laboratory analysis began at median age of 4.5 days. Positive screening results were mostly confirmed in specialised centres by analysis of organic acids in urine. Confirmation of a positive screening result usually did not start before the second week of life (median ages: 9.5 days [IVA], 9 days [GA-I], 8.5 days [PA, MMACBL]) and was completed early in the third week of life (median ages: 15 days [IVA, PA, MMA], 14.5 days [GA-I]). Treatment was initiated in GA-I and IVA at a median age of 14 days and in MMACBL and PA at a median age of 15 days. CONCLUSION: NBS for organic acidurias in Europe is variable and less often established than for amino acid disorders. While for GA-I its benefit has already been demonstrated, there is room for debate of NBS for IVA and especially PA and MMACBL.
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