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 language | English |
---|---|
Pages (from-to) | 058-064 |
Journal | Medicine and Medical Sciences |
Volume | 10 |
Issue number | 4 |
DOIs | |
Publication status | Published - 10 Aug 2022 |
Keywords
- Mass spectrometry
- Phenylketonuria
- Phenylalanine
- Blood
- Diagnosis