Since the 1960s, newborn screening (NBS) for early detection of metabolic disorders has helped prevent significant morbidity and mortality through early treatment. In the early 1990s, only a few inborn errors of metabolism (IEM), such as organic acidemias and amino acid catabolism disorders, could be screened for, and these required time- and labor-intensive single-enzyme assays. Tandem Mass Spectrometry (TMS), developed in 1990, had the potential to greatly expand NBS through the generation of acylcarnitine and amino acid biochemical profiles from fragmented ion samples of blood spots, allowing for simultaneous screening for multiple conditions. Prior small studies showed success using TMS to diagnose IEMs but the manual process remained labor intensive and potentially error prone. This study was the first to test the feasibility of automation and analysis with a large number of samples.

To assess feasibility of large-scale TMS with simultaneous acylcarnitine and amino acid profiling and to determine accuracy of automation of the sample input.

Qualitative study at a single metabolism center in Saudi Arabia over a 9-month period from 1993 to 1994.