Infantile-onset Pompe disease: Diagnosis and Management

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

PMID: 31339275

Luisa B Bay, Inés Denzler, Consuelo Durand, Hernán Eiroa, Joaquín Frabasil, Alejandro Fainboim, Clarisa Maxit, Andrea Schenone, Norma Spécola

Summary: This study updates the available clinical and diagnostic data about Pompe disease. The benefits and side effects of existing treatments and new therapeutic research are also reviewed.

Abstract

Background: Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a severe, autosomal recessive, and progressive genetic illness caused by alphaglucosidase deficiency. The classic infantile-onset form is the most well-known type of Pompe disease, with severe heart involvement and obvious hypotonia, whereas the non-classic type has early motor involvement. Late-onset Pompe disease usually affects adults, although it can also develop in children and adolescents.

Objective: Since early treatment with enzyme replacement therapy can improve patients' survival and quality of life, this study updates the available clinical and diagnostic data. This article also reviews the benefits and adverse effects of existing treatments, as well as future therapeutic research directions.

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