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Cardiogenetics
Volume 3
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10.4081/cardiogenetics.2013.s1.e5
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Review

Molecular Basis and Clinical Management of Pompe Disease

by
Giancarlo Parenti
1,2,*,
Giuseppe Di Iorio
3,
Simone Sampaolo
3,
Giuseppe Fiorentino
4,
Vincenzo Farina
5,
Simona Fecarotta
1,
Fabio Valente
6,
Serena Ascione
1,
Mario Caputi
4 and
Generoso Andria
1
1
Department of Translational Medical Sciences, Federico II University, Via S. Pansini 5, 80131 Naples, Italy
2
Telethon Institute of Genetics and Medicine, Naples, Italy
3
Department of Neurology, Second University of Naples, Italy
4
Respiratory Disease Pathophysiology and Rehabilitation Unit, Monaldi Hospital, AO Colli, Second University of Naples, Italy
5
Department of Pediatrics, Paediatric Cardiology, Federico II University, Naples, Italy
6
Cardiology Unit, Monaldi Hospital, AO Colli, Second University of Naples, Italy
*
Author to whom correspondence should be addressed.
Cardiogenetics 2013, 3(s1), e5; https://doi.org/10.4081/cardiogenetics.2013.s1.e5
Submission received: 9 January 2013 / Revised: 15 February 2013 / Accepted: 18 February 2013 / Published: 27 February 2013
Versions Notes

Abstract

Pompe disease (glycogenosis type II) is a rare autosomal recessive lysosomal storage disorder due to mutations of the GAA gene, leading to the deficiency of acid α-glucosidase and consequent glycogen storage in various tissues, mainly in the skeletal muscle, heart and liver. The consequent clinical picture is mainly due to the muscle and heart involvement, although clinical manifestations may be multi-systemic. The phenotype of patients is heterogeneous and the severity is inversely related to the residual enzymatic activity of acid α-glucosidase. More than 200 different mutations of GAA gene have been described and genotype/phenotype correlations have been established for some of them. Traditionally three forms have been described, i.e. early onset classical and non-classical forms and late onset attenuated forms. A severe hypertrophic cardiomyopathy in combination with conduction disorder in newborns represents a typical feature in the classic infantile presentation, while clinical picture in late onset forms is dominated by skeletal muscle dysfunction, resulting in mobility and respiratory problems. Enzyme replacement therapy with recombinant human GAA is the approved therapeutic approach in Pompe disease patients. Clinical trials on enzyme replacement therapy (ERT) support the efficacy in improving survival and hypertrophic cardiomyopathy, while efficacy seems to be variable on manifestations due to skeletal muscle involvement, mainly in lateonset patients. Considering the limitations of ERT and its high costs, innovative therapeutic approaches are now under development.
Keywords: Pompe disease; glycogen storage disease type II; acid a-glucosidase; acid maltase; metabolic myopathy Pompe disease; glycogen storage disease type II; acid a-glucosidase; acid maltase; metabolic myopathy

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MDPI and ACS Style

Parenti, G.; Di Iorio, G.; Sampaolo, S.; Fiorentino, G.; Farina, V.; Fecarotta, S.; Valente, F.; Ascione, S.; Caputi, M.; Andria, G. Molecular Basis and Clinical Management of Pompe Disease. Cardiogenetics 2013, 3, e5. https://doi.org/10.4081/cardiogenetics.2013.s1.e5

AMA Style

Parenti G, Di Iorio G, Sampaolo S, Fiorentino G, Farina V, Fecarotta S, Valente F, Ascione S, Caputi M, Andria G. Molecular Basis and Clinical Management of Pompe Disease. Cardiogenetics. 2013; 3(s1):e5. https://doi.org/10.4081/cardiogenetics.2013.s1.e5

Chicago/Turabian Style

Parenti, Giancarlo, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, and Generoso Andria. 2013. "Molecular Basis and Clinical Management of Pompe Disease" Cardiogenetics 3, no. s1: e5. https://doi.org/10.4081/cardiogenetics.2013.s1.e5

APA Style

Parenti, G., Di Iorio, G., Sampaolo, S., Fiorentino, G., Farina, V., Fecarotta, S., Valente, F., Ascione, S., Caputi, M., & Andria, G. (2013). Molecular Basis and Clinical Management of Pompe Disease. Cardiogenetics, 3(s1), e5. https://doi.org/10.4081/cardiogenetics.2013.s1.e5

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