Newborn screening of phenylketonuria using direct analysis in real time (DART) mass spectrometry

Chunyan Wang, Hongbin Zhu, Zongwei CAI, Fengrui Song*, Zhiqiang Liu, Shuying Liu

*Corresponding author for this work

Research output: Contribution to journalJournal articlepeer-review

33 Citations (Scopus)


Phenylketonuria (PKU) is commonly included in the newborn screening panel of most countries, with various techniques being used for quantification of l-phenylalanine (Phe). To diagnose PKU as early as possible in newborn screening, a rapid and simple method of analysis was developed. Using direct analysis in real time (DART) ionization coupled with triple-quadrupole tandem mass spectrometry (TQ-MS/MS) and with use of a 12 DIP-it tip scanner autosampler in positive ion mode, we analyzed dried blood spot (DBS) samples from PKU newborns. The concentration of Phe was determined using multiple reaction monitoring mode with the nondeuterated internal standard N,N- dimethylphenylalanine. The results of the analysis of DBS samples from newborns indicated that the DART-TQ-MS/MS method is fast, accurate, and reproducible. The results prove that this assay as a newborn screen for PKU can be performed in 18 s per sample for the quantification of Phe in DBS samples. DART-TQ-MS/MS analysis of the Phe concentration in DBS samples allowed us to screen newborns for PKU. This innovative protocol is rapid and can be effectively applied on a routine basis to analyze a large number of samples in PKU newborn screening and PKU patient monitoring. [Figure not available: see fulltext.]

Original languageEnglish
Pages (from-to)3159-3164
Number of pages6
JournalAnalytical and Bioanalytical Chemistry
Issue number10
Publication statusPublished - Apr 2013

Scopus Subject Areas

  • Analytical Chemistry
  • Biochemistry

User-Defined Keywords

  • Direct analysis in real time (DART) triple-quadrupole tandem mass spectrometry
  • Dried blood spot
  • Phenylalanine
  • Phenylketonuria


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