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.

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

Background/purpose: Glutaric aciduria type 1 (GA1) is an inborn error of lysine and tryptophan metabolism. There is a lack of initial diagnostic signs of the disease, but late treatment often results in severe neurologic impairment. In this study, we analyzed the results of screening for GA1 in a Chinese population.

Tandem mass neonatal screening in Taiwan--report from one center.

Background/purpose: Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.

Methods: Between August 2001 and July 2004, 199, 922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center.