Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm
Clinical diagnosis of LOPD in pediatrics is challenging in spite of its frequent presentation within 3 years of age. A selective screening by measuring GAA activity on dried blood spot in the two main clinical diagnostic contexts of LOPD in pediatrics - namely (1) age-related myopathic symptoms or (2) asymptomatic hyperCKemia (and hypertransaminasemia) - will likely ensure diagnostic anticipation for those patients not screened for Pompe's disease in the neonatal period.
Authors
- Giancarlo Parenti (ORCID: https://orcid.org/0000-0002-6287-5748)
- Agata Fiumara (ORCID: https://orcid.org/0000-0003-3216-2154)
- Adele D’Amico (ORCID: https://orcid.org/0000-0003-2438-2624)
- Marco Spada (ORCID: https://orcid.org/0000-0003-0796-6847)
- Chiara Panicucci (ORCID: https://orcid.org/0000-0003-4571-611X)
- Veronica Pagliardini
- Maurizio Scarpa (ORCID: https://orcid.org/0000-0002-0382-3251)
- Monica Marica
- Anna Cavallini (ORCID: https://orcid.org/0000-0002-5227-1502)
- Roberta Taurisano
- Massimiliano Filosto (ORCID: https://orcid.org/0000-0002-2852-7512)
- Federica Ricci (ORCID: https://orcid.org/0000-0003-2019-612X)
- Albina Tummolo (ORCID: https://orcid.org/0000-0001-8823-8061)
- Valentina Rovelli
- Rita Fischetto (ORCID: https://orcid.org/0000-0002-4754-3462)
- Maria Alice Donati (ORCID: https://orcid.org/0000-0003-4769-5025)
- Michele Sacchini
- Francesca Menni (ORCID: https://orcid.org/0000-0003-2724-2811)
- D. Jeya Mala (ORCID: https://orcid.org/0000-0002-2100-8218)
- Guja Astrea (ORCID: https://orcid.org/0000-0001-8588-0323)
- Francesco Porta (ORCID: https://orcid.org/0000-0003-3899-4867)
- Federica Deodato (ORCID: https://orcid.org/0000-0002-1914-6048)
- Viola Crescitelli
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Francesca Furlan (ORCID: https://orcid.org/0000-0003-2750-1975)
- Vincenza Gragnaniello (ORCID: https://orcid.org/0000-0001-6384-652X)
- Andrea Pession (ORCID: https://orcid.org/0000-0002-0379-9562)
- Serena Gasperini (ORCID: https://orcid.org/0000-0001-8743-4407)
- Simona Fecarotta (ORCID: https://orcid.org/0000-0002-8449-361X)
- Daniela Concolino (ORCID: https://orcid.org/0000-0003-1223-7358)
- Carlo Dionisi‐Vici (ORCID: https://orcid.org/0000-0002-0007-3379)
- Lucia Santoro (ORCID: https://orcid.org/0000-0002-8987-4139)
- Claudio Bruno
- Alberto Burlina
- Beatrice Bracci
Institutions
- University of Udine (IT)
- University of Padua (IT)
- University of Milan (IT)
- Istituto Giannina Gaslini (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Magna Graecia University (IT)
- University of Catania (IT)
- Azienda Ospedaliera San Gerardo (IT)
- Ospedale San Paolo (IT)
- Meyer Children's Hospital (IT)
- Don Carlo Gnocchi Foundation (IT)
- Azienda USL di Bologna (IT)
- Presidio Ospedaliero (IT)
- Bambino Gesù Children's Hospital (IT)
- Fondazione Stella Maris (IT)
- Policlinico Universitario di Catania (IT)
- Ospedale Pediatrico Giovanni XXIII (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Department of Public Health (US)
- Azienda Ospedaliera G. Brotzu (IT)
- University of Turin (IT)
- University of Brescia (IT)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1186/s13023-025-04063-x
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi