Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

• Published in: Molecular genetics and metabolism Vol. 109; no. 2; pp. 171 - 173
• Main Authors: Spada, Marco, Porta, Francesco, Vercelli, Liliana, Pagliardini, Veronica, Chiadò-Piat, Loredana, Boffi, Patrizia, Pagliardini, Severo, Remiche, Gauthier, Ronchi, Dario, Comi, Giacomo, Mongini, Tiziana
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2013
• Subjects: Adult; Aged; Asymptomatic Diseases; Case-Control Studies; Creatine Kinase - blood; Female; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - enzymology; Glycogen Storage Disease Type II - epidemiology; Humans; Indexing in process; Male; Mass Screening; Middle Aged; Pompe's disease; Prevalence; Young Adult; Pompe's disease
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2013.03.002

Pompe's disease is an inherited metabolic myopathy caused by acid α-glucosidase deficiency. Early diagnosis optimizes the treatment effectiveness. One-hundred-thirty-seven consecutive patients with unexplained hyperCKemia underwent the assessment of acid α-glucosidase activity on dried blood spot. Second tier confirmatory testing in positive patients included the assessment of α-glucosidase activity on lymphocytes or muscle tissue and molecular analysis. Three patients were diagnosed with later-onset Pompe's disease, revealing 2.2% prevalence in asymptomatic hyperCKemia. Moreover, three patients positive to the screening revealed abnormal biochemical second tier testing, but were heterozygous for the common c.−32−13T>G mutation at molecular level. The selective screening for later-onset Pompe's disease in asymptomatic hyperCKemia allowed the identification of affected patients in a pre-clinical stage. Additionally, the identification of carriers with biochemical alterations related to Pompe's disease extends the spectrum of its manifestations to heterozygous subjects. •The selective screening for Pompe’s disease allows the identification of affected patients in a pre-clinical stage.•We found that the prevalence of Pompe’s disease in patients with asymptomatic hyperCKemia is 2.2%.•Heterozygous subjects can show biochemical alterations related to Pompe’s disease.