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. 2019 Aug 1;117(4):271-278.
doi: 10.5546/aap.2019.eng.271.

Infantile-onset Pompe disease: Diagnosis and management

[Article in English, Spanish]
Luisa B Bay  1 , Inés Denzler  2 , Consuelo Durand  3 , Hernán Eiroa  4 , Joaquín Frabasil  3 , Alejandro Fainboim  5 , Clarisa Maxit  2 , Andrea Schenone  3 , Norma Spécola  6
Affiliations
Free article

Infantile-onset Pompe disease: Diagnosis and management

[Article in English, Spanish]
Luisa B Bay et al. Arch Argent Pediatr. .
Free article

Abstract
in English, Spanish

Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by deficiency in alpha-glucosidase. The classic infantile-onset is the most broadly known form of Pompe disease, which presents with severe heart involvement and clear hypotonia, while the non-classic presentation occurs with early motor involvement. Late-onset Pompe disease develops in adults, but it may also occur during childhood or adolescence. Here we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve patients' survival and quality of life. We also review the benefits and adverse effects of available treatments and new lines of therapeutic research.

La enfermedad de Pompe, o deficiencia de maltasa ácida o glucogenosis tipo II, es una grave enfermedad genética, autosómica recesiva, progresiva, poco frecuente, causada por la deficiencia en la enzima alfa glucosidasa. En la edad pediátrica, puede presentarse con la "forma clásica", la más conocida, con grave compromiso cardíaco y franca hipotonía, o con la "forma no clásica", con comienzo temprano del compromiso motor. La "forma de comienzo tardío" del adulto también puede ocurrir en la infancia o en la adolescencia. Se actualizan los hallazgos clínicos y de diagnóstico disponibles, ya que un tratamiento temprano con reemplazo de la enzima faltante puede mejorar la supervivencia y la calidad de vida del paciente. Se revisan los beneficios y los efectos adversos del tratamiento disponible y nuevas líneas de investigación terapéutica.

Keywords: Cardiomyopathies; Glycogenosis type II; Motor disorders; Muscular hypotonia; Pompe disease.

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Conflict of interest statement

Luisa B. Bay, M.D., and Alejandro Fainboim, M.D., have received fees for teaching activities from the pharmaceutical company that markets the drug for the disease subject of this update.

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