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.
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: Paula Hernández-Arévalo; José D Santotoribio; Rocío Delarosa-Rodríguez; Antonio González-Meneses; Salvador García-Morillo; Pilar Jiménez-Arriscado; Juan M Guerrero; Hada C Macher Journal: Orphanet J Rare Dis Date: 2021-05-21 Impact factor: 4.123
Authors: Zoltan Lukacs; Paulina Nieves Cobos; Stephan Wenninger; Tracey A Willis; Michela Guglieri; Marc Roberts; Rosaline Quinlivan; David Hilton-Jones; Teresinha Evangelista; Stephan Zierz; Beate Schlotter-Weigel; Maggie C Walter; Peter Reilich; Thomas Klopstock; Marcus Deschauer; Volker Straub; Wolfgang Müller-Felber; Benedikt Schoser Journal: Neurology Date: 2016-05-11 Impact factor: 9.910
Authors: W N Löscher; M Huemer; T M Stulnig; P Simschitz; S Iglseder; C Eggers; H Moser; D Möslinger; M Freilinger; F Lagler; S Grinzinger; M Reichhardt; R E Bittner; W M Schmidt; U Lex; M Brunner-Krainz; S Quasthoff; J V Wanschitz Journal: J Neurol Date: 2017-11-27 Impact factor: 4.849