Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

• Published in: The Journal of pediatrics 2011-06, Vol.158 (6), p.1023-1027.e1
• Main Authors: Chien, Yin-Hsiu, MD, PhD, Lee, Ni-Chung, MD, Huang, Hsiang-Ju, MS, Thurberg, Beth L., MD, PhD, Tsai, Fuu-Jen, MD, PhD, Hwu, Wuh-Liang, MD, PhD
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; alpha-Glucosidases - genetics; Biological and medical sciences; Biopsy; blood serum; Carbohydrates (enzymatic deficiencies). Glycogenosis; Cardiomyopathies - metabolism; cardiomyopathy; creatine kinase; Creatine Kinase - blood; Enzyme Replacement Therapy - methods; Errors of metabolism; Female; fibroblasts; Fibroblasts - metabolism; General aspects; genes; glycogen; Glycogen - metabolism; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - therapy; Humans; Infant, Newborn; lipids; Lipids - chemistry; Male; Medical sciences; Metabolic diseases; Middle Aged; motor development; muscles; Mutation; Neonatal Screening - methods; neonates; patients; Pediatrics; Prevention and actions; Public health. Hygiene; Public health. Hygiene-occupational medicine; screening; Skin - metabolism
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2010.11.053

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.