NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates

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aygen s., duerr u., hegele p., Kunig J., spraul m., Schaefer H., ...More

JIMD REPORTS, VOL 16, vol.16, pp.101-111, 2014 (Refereed Journals of Other Institutions) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16
  • Publication Date: 2014
  • Doi Number: 10.1007/8904_2014_326
  • Title of Journal : JIMD REPORTS, VOL 16
  • Page Numbers: pp.101-111


Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative.