Five Years of Newborn Screening for Lysosomal Disorders in Indiana

Pompe disease, Krabbe disease, and mucopolysaccharidosis type I were added to the newborn screen in Indiana in 2020. Clinical and laboratory teams collaborated to determine optimal strategies for first- and second-tier testing on newborn screen prior to referral to the metabolism clinic. Our metabolism clinic has worked with neurology, cardiology, and hematology/oncology departments to determine and execute best initial work-up, therapeutic, and ongoing surveillance approaches to manage patients diagnosed with one of these lysosomal disorders on newborn screen. In the first five years of this screening, 27 patients have been diagnosed with Pompe disease (three infantile-onset, 24 late-onset), 13 patients with Krabbe disease (one early infantile, 12 late-onset), and five patients with mucopolysaccharidosis type I (three severe phenotype, one with attenuated phenotype, one with possible attenuated disease). Our experience in caring for these individuals has helped to further refine second-tier testing and our clinical evaluation and management of these patients.