TY - JOUR
T1 - Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia
AU - Spada, Marco
AU - Porta, Francesco
AU - Vercelli, Liliana
AU - Pagliardini, Veronica
AU - Chiadò-Piat, Loredana
AU - Boffi, Patrizia
AU - Pagliardini, Severo
AU - Remiche, Gauthier
AU - Ronchi, Dario
AU - Comi, Giacomo
AU - Mongini, Tiziana
PY - 2013/6
Y1 - 2013/6
N2 - 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.
AB - 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.
KW - Pompe's disease
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U2 - 10.1016/j.ymgme.2013.03.002
DO - 10.1016/j.ymgme.2013.03.002
M3 - Article
C2 - 23566438
AN - SCOPUS:84878520552
VL - 109
SP - 171
EP - 173
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 2
ER -