For a study, researchers sought to determine how patients with late-onset Pompe disease (LOPD) fared after being detected by neonatal screening (NBS). From the start of Pompe disease NBS, prospective observational cohort research was done, with patients being followed every 3-12 months for motor development and biochemical indicators.
Between 2005 and 2018, 39 out of 994,975 babies were diagnosed with LOPD based on poor acid -glucosidase (GAA) activity but no cardiac abnormalities at the time of screening. As of December 2020, 8 of these 39 babies (21%) were receiving enzyme replacement medication due to chronic creatine kinase (CK) elevation, cardiac involvement, or developmental delay. Physical performance and endurance increased in all participants following therapy.
Subjects with c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] had nonprogressive hypotonia, muscular weakness, and impairment in physical fitness tests, but they were not treated. After a 15-year follow-up, one-fifth of participants diagnosed with LOPD using NBS developed symptoms. NBS was discovered to aid in the early diagnosis and treatment of such people. Although GAA mutations c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] do not induce Pompe disease; they may impair skeletal muscle function.