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. © 2013 Elsevier Inc.

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia / M. Spada, F. Porta, L. Vercelli, V. Pagliardini, L. Chiadò-Piat, P. Boffi, S. Pagliardini, G. Remiche, D. Ronchi, G. Comi, T. Mongini. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 109:2(2013 Jun), pp. 171-173.

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

D. Ronchi;G. Comi;
2013

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. © 2013 Elsevier Inc.
Pompe's disease; Adult; Aged; Asymptomatic Diseases; Case-Control Studies; Creatine Kinase; Female; Glycogen Storage Disease Type II; Humans; Male; Mass Screening; Middle Aged; Prevalence; Young Adult; Biochemistry; Molecular Biology; Genetics; Endocrinology; Endocrinology, Diabetes and Metabolism
Settore MED/26 - Neurologia
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/253958
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