Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
- Published on 07/26/2024
- Reading time: 3 min.
Castellar-Leones Sandra Milena 1,2,3, Ortiz-Corredor Fernando 1,2,3,4, Manrique-Hernández Daniel 5, Sánchez-Peñarete Diana 6, Ruiz-Ospina Edicson 1,2, Soto-Peña Diana 4, Correa-Arrieta Cristian 2,4
1 https://ror.org/059yx9a68 Facultad de Medicina Universidad Nacional de Colombia Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A Bogotá Colombia
2 Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL Bogotá Colombia
3 https://ror.org/0544yj280 Hospital Universitario Nacional de Colombia Bogotá Colombia
4 Instituto Roosevelt Bogotá Colombia
5 https://ror.org/02sqgkj21 Universidad de la Sabana Chía Colombia
6 https://ror.org/052d0td05 Hospital Universitario San Ignacio Bogotá Colombia
Abstract
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who...
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