Diagnosis of phenylketonuria by mass spectrometry: An overview

Research output: Contribution to journalReview articlepeer-review

Abstract

Newborn screening of phenylketonuria (PKU) is an important aspect in the world since PKU is a serious worldwide inborn genetic disorder that causes different mental and physiological problems to human. Diagnosis of PKU at the earliest stage is the best circumstance because PKU is one of the few genetic diseases that can be controlled by dietary treatment. Therefore, newborn screening of PKU has been included in clinical newborn screening panel of most countries now with various detection techniques, e.g. bacterial inhibition assay (Guthrie test) and tandem mass spectrometry (MS/MS). This study would review and summarize different newborn screening technologies of PKU in order to have an overview of the history and development in molecular diagnosis of PKU. Diagnostic mechanisms, applications, advantages and limitations of different newborn screening techniques of PKU would also be studied at the same time.
Original languageEnglish
Pages (from-to)058-064
JournalMedicine and Medical Sciences
Volume10
Issue number4
DOIs
Publication statusPublished - 10 Aug 2022

Keywords

  • Mass spectrometry
  • Phenylketonuria
  • Phenylalanine
  • Blood
  • Diagnosis

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