P460: Newborn screening for metachromatic leukodystrophy: A combined method of analysis*

Metachromatic leukodystrophy (MLD) or arylsulfatase A deficiency is a rare autosomal recessive genetic disorder that leads to progressive neurologic dysfunction with an estimated birth prevalence of 1 in 40,000 to 170,000. A major advancement in the treatment of MLD, an FDA approved autologous, hematopoietic stem cell transplantation (Lenmeldy), has increased interest in early disease detection via newborn screening. The New York State (NYS) Newborn Screening (NBS) Program began to screen for MLD in May 2021 as one of fourteen disorders included in a consented pilot study (ScreenPlus), using liquid chromatography tandem mass spectrometry (LC-MS/MS) to quantify the single biomarker C16:0-sulfatide.