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

Marco Spada, Francesco Porta, Liliana Vercelli, Veronica Pagliardini, Loredana Chiadò-Piat, Patrizia Boffi, Severo Pagliardini, Gauthier Remiche, Dario Ronchi, Giacomo Comi, Tiziana Mongini

Research output: Contribution to journalArticlepeer-review


Background: Pompe's disease is an inherited metabolic myopathy caused by acid α-glucosidase deficiency. Early diagnosis optimizes the treatment effectiveness. Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish
Pages (from-to)171-173
Number of pages3
JournalMolecular Genetics and Metabolism
Issue number2
Publication statusPublished - Jun 2013


  • Pompe's disease

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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