Abstract
The adaptation of the analytical technique, tandem mass spectrometry (MS/MS), as a tool to screen blood samples from newborns for markers suggestive of certain rare inborn errors of metabolism (IEM) has had a significant impact on the early diagnosis and successful treatment of these disorders. It is important for professionals in the field of IEM to realize the limitations, as well as the power, of this methodology when applied to newborn screening (NBS). The ability to add more than 30 rare disorders to the NBS panel has made the medical community aware of the need for greater educational opportunities for healthcare professionals involved in the care of the newborns, greater availability of diagnostic testing, more resources for long-term treatment, and a means for continually evaluating the NBS programs for improvements in outcome within limited healthcare dollars.