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


Aygen S., Duerr U., Hegele P., Kunig J., Spraul M., Schaefer H., ...Daha Fazla

JIMD REPORTS, VOL 16, cilt.16, ss.101-111, 2014 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 16
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/8904_2014_326
  • Dergi Adı: JIMD REPORTS, VOL 16
  • Sayfa Sayıları: ss.101-111

Özet

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.