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March 24/31, 2004

Screening of Newborns for Metabolic Disorders With Mass Spectrometry—Reply

Author Affiliations

Letters Section Editor: Stephen J. Lurie, MD, PhD, Senior Editor.

JAMA. 2004;291(12):1444. doi:10.1001/jama.291.12.1444-c

In Reply: We agree with Dr Wilcken that our study did not "unequivocally" demonstrate clinical benefit for children with metabolic disorders detected through expanded newborn screening, especially as variant forms of a number of the disorders are likely to be detected.1 However, in our study the near elimination of mental retardation in children identified by expanded newborn screening compared with a rate of 40% in clinically identified cases attests to its benefit in some children.