title: Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Torino, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
authors.forename: Francesco
authors.initials: F
authors.lastname: Porta
authors.forename: Liliana
authors.initials: L
authors.lastname: Vercelli
authors.forename: Veronica
authors.initials: V
authors.lastname: Pagliardini
authors.forename: Loredana
authors.initials: L
authors.lastname: Chiadò-Piat
authors.forename: Patrizia
authors.initials: P
authors.lastname: Boffi
authors.forename: Severo
authors.initials: S
authors.lastname: Pagliardini
authors.forename: Gauthier
authors.initials: G
authors.lastname: Remiche
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Giacomo
authors.initials: G
authors.lastname: Comi
authors.forename: Tiziana
authors.initials: T
authors.lastname: Mongini
mesh_terms: D000328:Adult; D000368:Aged; D058070:Asymptomatic Diseases; D016022:Case-Control Studies; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology / Q000453:epidemiology; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D015995:Prevalence; D055815:Young Adult
chemical_list: D003402:Creatine Kinase