Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by enabling early diagnosis and intervention with enzyme replacement therapy. NBS also identifies late-onset PD (LOPD) cases, wherein children have a wide clinical spectrum and may remain asymptomatic for years, placing families in uncertainty as "patients-in-waiting.

Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.

Background: In 2015, Illinois added Fabry disease to the newborn screening (NBS) panel, and numerous individuals who have the controversial p.A143T GLA variant were identified. Ann & Robert H.