OBJECTIVE: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their motor development and serum creatine kinase levels were monitored every 3 to 6 months. RESULTS: Among 344 056 newborns, 13 (1 in 26 466) were found to have later-onset Pompe disease. During a follow-up period of up to 4 years, four patients were treated because of hypotonia, muscle weakness, delayed developmental milestones/motor skills, or elevated creatine kinase levels starting at the ages of 1.5, 14, 34, and 36 months, respectively. Muscle biopsy specimens obtained from the treated patients revealed increased storage of glycogen and lipids. CONCLUSION: Newborn screening was found to facilitate the early detection of later-onset Pompe disease. A subsequent symptomatic approach then identifies patients who need early treatment initiation.
OBJECTIVE: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their motor development and serum creatine kinase levels were monitored every 3 to 6 months. RESULTS: Among 344 056 newborns, 13 (1 in 26 466) were found to have later-onset Pompe disease. During a follow-up period of up to 4 years, four patients were treated because of hypotonia, muscle weakness, delayed developmental milestones/motor skills, or elevated creatine kinase levels starting at the ages of 1.5, 14, 34, and 36 months, respectively. Muscle biopsy specimens obtained from the treated patients revealed increased storage of glycogen and lipids. CONCLUSION: Newborn screening was found to facilitate the early detection of later-onset Pompe disease. A subsequent symptomatic approach then identifies patients who need early treatment initiation.
Authors: Mónica Yasmín Niño; Heidi Eliana Mateus; Dora Janeth Fonseca; Marian A Kroos; Sandra Yaneth Ospina; Juan Fernando Mejía; Jesús Alfredo Uribe; Arnold J J Reuser; Paul Laissue Journal: JIMD Rep Date: 2012-04-19
Authors: Mari Mori; Gloria Haskell; Zoheb Kazi; Xiaolin Zhu; Stephanie M DeArmey; Jennifer L Goldstein; Deeksha Bali; Catherine Rehder; Elizabeth T Cirulli; Priya S Kishnani Journal: Mol Genet Metab Date: 2017-10-17 Impact factor: 4.797
Authors: Yin-Hsiu Chien; Jennifer L Goldstein; Wuh-Liang Hwu; P Brian Smith; Ni-Chung Lee; Shu-Chuan Chiang; Adviye A Tolun; Haoyue Zhang; Amie E Vaisnins; David S Millington; Priya S Kishnani; Sarah P Young Journal: JIMD Rep Date: 2015-02-15
Authors: Mugdha V Rairikar; Laura E Case; Lauren A Bailey; Zoheb B Kazi; Ankit K Desai; Kathryn L Berrier; Julie Coats; Rachel Gandy; Rebecca Quinones; Priya S Kishnani Journal: Mol Genet Metab Date: 2017-09-19 Impact factor: 4.797