Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.
Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical. This obstacle was overcome by employing the tandem mass spectrometry (MS/MS) technology. In the analysis, the samples can be injected directly into the flowing system without passing through a column, and both acylcarnitine and amino acid profiles can be obtained at the same time. MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism. Recently, MS/MS analytical methods were developed for second-tier tests of newborn screening; new substrates have also been developed to measure the activity of lysosomal enzymes so lysosomal storage diseases can be diagnosed by MS/MS method now.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, hwuwlntu@ntu.edu.tw.
Wuh-Liang
WL
Hwu
Yin-Hsiu
YH
Chien
Ni-Chung
NC
Lee
Shiao-Fang
SF
Wang
Shu-Chuan
SC
Chiang
Li-Wen
LW
Hsu
D000596:Amino Acids / Q000032:analysis; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000379:methods*
D000596:Amino Acids; C116917:acylcarnitine; D002331:Carnitine