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JIMD Reports, Volume 32 pp 105–115Cite as

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

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Part of the book series: JIMD Reports ((JIMD,volume 32))

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.

Competing interests: None declared

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Abbreviations

EFTA:

European Free Trade Association

ESPE:

European Society for Paediatric Endocrinology

FYROM:

Former Yugoslav Republic of Macedonia

GA-I:

Glutaric aciduria type I, OMIM 231670 deficiency of glutaryl-CoA dehydrogenase

GP:

General practitioner

IVA:

Isovaleric aciduria, OMIM 243500 deficiency of isovaleryl-CoA dehydrogenase

ISNS:

International Society for Neonatal Screening

MMACBL:

Methylmalonic aciduria including cblA, cblB, cblC and cblD defects

OMIM 251000 methylmalonic aciduria, methylmalonyl-CoA mutase deficiency

OMIM 251100 methylmalonic aciduria, cblA type

OMIM 251110 methylmalonic aciduria, cblB type

OMIM 277400 methylmalonic aciduria and homocystinuria, cblC type

OMIM 277410 methylmalonic aciduria and homocystinuria, cblD type

NBS:

Newborn screening

PA:

Propionic aciduria

OMIM 232050 deficiency of propionyl-CoA carboxylase subunit β

OMIM 232000 deficiency of propionyl-CoA carboxylase subunit α

SSIEM:

Society for the Study of Inborn Errors of Metabolism

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Acknowledgements

We thank all respondents for contributing their data to the survey. Collection of data underlying this publication was funded by the European Union contract number 2009 6206 of the Executive Agency for Health and Consumers.

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Authors and Affiliations

  1. Division of Neuropediatrics and Inherited Metabolic Diseases, Department of General Pediatrics, University Children’s Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany

    Friederike Hörster, Stefan Kölker, Georg F. Hoffmann & Peter Burgard

  2. International Society for Neonatal Screening, Bilthoven, The Netherlands

    J. Gerard Loeber

  3. Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands

    Martina C. Cornel

Authors
  1. Friederike Hörster
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  2. Stefan Kölker
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  3. J. Gerard Loeber
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  4. Martina C. Cornel
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  5. Georg F. Hoffmann
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  6. Peter Burgard
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Corresponding author

Correspondence to Friederike Hörster .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava (Editor-in-Chief) (Editor-in-Chief)

  2. Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters (Managing Editor) (Managing Editor)

Additional information

Communicated by: Bridget Wilcken

Appendices

Synopsis

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 defects. For optimal benefit NBS for intoxication-type organic acidurias has to be fast and treatment has to be started pre-emptively, i.e. even before the diagnosis is confirmed.

Authors’ Contributions

Designing, planning and conducting the study: All authors

Collection of data and statistical analysis: Peter Burgard

Manuscript writing: All authors

Guarantor

Peter Burgard

Conflict of Interest

Friederike Hörster, Stefan Kölker, J. Gerard Loeber, Martina C. Cornel, Georg F. Hoffmann and Peter Burgard declare that they have no conflict of interests.

Details of Funding

Collection of data underlying this publication was funded by the European Union contract number 2009 6206 of the Executive Agency for Health and Consumers. All authors declare that the content of the article has not been influenced by the sponsors.

Ethics Approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. No data on individual patients are included in this study; therefore no informed consent had to be obtained.

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Hörster, F., Kölker, S., Loeber, J.G., Cornel, M.C., Hoffmann, G.F., Burgard, P. (2016). Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 32. JIMD Reports, vol 32. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_537

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  • DOI: https://doi.org/10.1007/8904_2016_537

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-54384-9

  • Online ISBN: 978-3-662-54385-6

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