<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the <italic>GAA</italic> gene. Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia and hypertrophic cardiomyopathy to late-onset diseases such as myopathy and respiratory compromise. The diagnosis requires demonstration of deficiency of the lysosomal acid alpha-glucosidase enzyme, which can be assayed in dried blood spot or liquid blood samples, together with supportive biomarker tests, and confirmed with molecular genetic analysis. Targeted screening of at-risk populations and universal newborn screening can result in earlier diagnosis and enable earlier treatment initiation, which result in the potential improvement of clinical outcomes. Disease-modifying treatment with enzyme replacement therapy has partially altered the natural history of the disease, but more efficacious novel therapies are under evaluation including second-generation enzyme replacement therapies, molecular chaperones and gene therapy approaches. Long-term survivors with Pompe disease are now manifesting novel aspects of the disease including widespread vascular disease, smooth muscle and central nervous system involvement, and these emerging phenotypes will require additional specific therapeutic approaches.</p></abstract>

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia and hypertrophic cardiomyopathy to late-onset diseases such as myopathy and respiratory compromise. The diagnosis requires demonstration of deficiency of the lysosomal acid alpha-glucosidase enzyme, which can be assayed in dried blood spot or liquid blood samples, together with supportive biomarker tests, and confirmed with molecular genetic analysis. Targeted screening of at-risk populations and universal newborn screening can result in earlier diagnosis and enable earlier treatment initiation, which result in the potential improvement of clinical outcomes. Disease-modifying treatment with enzyme replacement therapy has partially altered the natural history of the disease, but more efficacious novel therapies are under evaluation including second-generation enzyme replacement therapies, molecular chaperones and gene therapy approaches. Long-term survivors with Pompe disease are now manifesting novel aspects of the disease including widespread vascular disease, smooth muscle and central nervous system involvement, and these emerging phenotypes will require additional specific therapeutic approaches.

Advances in diagnosis and management of Pompe disease

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"Advances in diagnosis and management of Pompe disease"}

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive...

Advances in diagnosis and management of Pompe disease

Article Category: Review paper

Pubblicato online: 02 ott 2020

Pagine: 3 - 8

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2001.000002

Parole chiave
Pompe disease, enzyme replacement therapy, gene therapy

© 2020 James E. Davison, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Advances in diagnosis and management of Pompe disease

Article Category: Review paper

Pubblicato online: 02 ott 2020

Pagine: 3 - 8

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2001.000002

Parole chiavePompe disease, enzyme replacement therapy, gene therapy

© 2020 James E. Davison, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
Pompe disease, enzyme replacement therapy, gene therapy