Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province China

摘要

BackgroundTandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children.