Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

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Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes. / Van Rijt, Willemijn J.; Koolhaas, Geneviève D.; Bekhof, Jolita; Heiner Fokkema, M. Rebecca; De Koning, Tom J.; Visser, Gepke; Schielen, Peter C.J.I.; Van Spronsen, Francjan J.; Derks, Terry G.J.

I: Neonatology, Vol. 109, Nr. 4, 01.06.2016, s. 297-302.

Forskningsoutput: TidskriftsbidragÖversiktsartikel

Harvard

Van Rijt, WJ, Koolhaas, GD, Bekhof, J, Heiner Fokkema, MR, De Koning, TJ, Visser, G, Schielen, PCJI, Van Spronsen, FJ & Derks, TGJ 2016, 'Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes', Neonatology, vol. 109, nr. 4, s. 297-302. https://doi.org/10.1159/000443874

APA

Van Rijt, W. J., Koolhaas, G. D., Bekhof, J., Heiner Fokkema, M. R., De Koning, T. J., Visser, G., Schielen, P. C. J. I., Van Spronsen, F. J., & Derks, T. G. J. (2016). Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Neonatology, 109(4), 297-302. https://doi.org/10.1159/000443874

CBE

Van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, De Koning TJ, Visser G, Schielen PCJI, Van Spronsen FJ, Derks TGJ. 2016. Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Neonatology. 109(4):297-302. https://doi.org/10.1159/000443874

MLA

Vancouver

Author

Van Rijt, Willemijn J. ; Koolhaas, Geneviève D. ; Bekhof, Jolita ; Heiner Fokkema, M. Rebecca ; De Koning, Tom J. ; Visser, Gepke ; Schielen, Peter C.J.I. ; Van Spronsen, Francjan J. ; Derks, Terry G.J. / Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes. I: Neonatology. 2016 ; Vol. 109, Nr. 4. s. 297-302.

RIS

TY - JOUR

T1 - Inborn Errors of Metabolism That Cause Sudden Infant Death

T2 - A Systematic Review with Implications for Population Neonatal Screening Programmes

AU - Van Rijt, Willemijn J.

AU - Koolhaas, Geneviève D.

AU - Bekhof, Jolita

AU - Heiner Fokkema, M. Rebecca

AU - De Koning, Tom J.

AU - Visser, Gepke

AU - Schielen, Peter C.J.I.

AU - Van Spronsen, Francjan J.

AU - Derks, Terry G.J.

PY - 2016/6/1

Y1 - 2016/6/1

N2 - Background: Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes. Objectives and Methods: This was a comprehensive systematic literature review to identify all IEMs associated with SID, including their treatability and detectability by NBS technologies. Reye syndrome (RS) was included in the search strategy because this condition can be considered a possible pre-stage of SID in a continuum of aggravating symptoms. Results: 43 IEMs were identified that were associated with SID and/or RS. Of these, (1) 26 can already present during the neonatal period, (2) treatment is available for at least 32, and (3) 26 can currently be identified by the analysis of acylcarnitines and amino acids in dried bloodspots (DBS). Conclusion: We advocate an extensive analysis of amino acids and acylcarnitines in blood/plasma/DBS and urine for all children who died suddenly and/or unexpectedly, including neonates in whom blood had not yet been drawn for the routine NBS test. The application of combined metabolite screening and DNA-sequencing techniques would facilitate fast identification and maximal diagnostic yield. This is important information for clinicians who need to maintain clinical awareness and decision-makers to improve population NBS programmes.

AB - Background: Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes. Objectives and Methods: This was a comprehensive systematic literature review to identify all IEMs associated with SID, including their treatability and detectability by NBS technologies. Reye syndrome (RS) was included in the search strategy because this condition can be considered a possible pre-stage of SID in a continuum of aggravating symptoms. Results: 43 IEMs were identified that were associated with SID and/or RS. Of these, (1) 26 can already present during the neonatal period, (2) treatment is available for at least 32, and (3) 26 can currently be identified by the analysis of acylcarnitines and amino acids in dried bloodspots (DBS). Conclusion: We advocate an extensive analysis of amino acids and acylcarnitines in blood/plasma/DBS and urine for all children who died suddenly and/or unexpectedly, including neonates in whom blood had not yet been drawn for the routine NBS test. The application of combined metabolite screening and DNA-sequencing techniques would facilitate fast identification and maximal diagnostic yield. This is important information for clinicians who need to maintain clinical awareness and decision-makers to improve population NBS programmes.

KW - Inborn error of metabolism

KW - Metabolic autopsy

KW - Mitochondrial fatty acid oxidation

KW - Neonatal screening

KW - Reye syndrome

KW - Sudden infant death

UR - http://www.scopus.com/inward/record.url?scp=84959240813&partnerID=8YFLogxK

U2 - 10.1159/000443874

DO - 10.1159/000443874

M3 - Review article

C2 - 26907928

AN - SCOPUS:84959240813

VL - 109

SP - 297

EP - 302

JO - Neonatology

JF - Neonatology

SN - 1661-7800

IS - 4

ER -