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Newborn Screening for Pompe Disease

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzy...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423004/
https://www.ncbi.nlm.nih.gov/pubmed/33073027
http://dx.doi.org/10.3390/ijns6020031
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author Sawada, Takaaki
Kido, Jun
Nakamura, Kimitoshi
author_facet Sawada, Takaaki
Kido, Jun
Nakamura, Kimitoshi
author_sort Sawada, Takaaki
collection PubMed
description Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Early initiation of ERT in infantile-onset PD improves survival, reduces the need for ventilation, results in earlier independent walking, and enhances patient quality of life. Newborn screening (NBS) is the optimal approach for early diagnosis and treatment of PD. In NBS for PD, measurement of AαGlu enzyme activity in dried blood spots (DBSs) is conducted using fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry. The presence of pseudodeficiency alleles, which are frequent in Asian populations, interferes with NBS for PD, and current NBS systems cannot discriminate between pseudodeficiency and cases with PD or potential PD. The combination of GAA gene analysis with NBS is essential for definitive diagnoses of PD. In this review, we introduce our experiences and discuss NBS programs for PD implemented in various countries.
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spelling pubmed-74230042020-10-15 Newborn Screening for Pompe Disease Sawada, Takaaki Kido, Jun Nakamura, Kimitoshi Int J Neonatal Screen Review Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Early initiation of ERT in infantile-onset PD improves survival, reduces the need for ventilation, results in earlier independent walking, and enhances patient quality of life. Newborn screening (NBS) is the optimal approach for early diagnosis and treatment of PD. In NBS for PD, measurement of AαGlu enzyme activity in dried blood spots (DBSs) is conducted using fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry. The presence of pseudodeficiency alleles, which are frequent in Asian populations, interferes with NBS for PD, and current NBS systems cannot discriminate between pseudodeficiency and cases with PD or potential PD. The combination of GAA gene analysis with NBS is essential for definitive diagnoses of PD. In this review, we introduce our experiences and discuss NBS programs for PD implemented in various countries. MDPI 2020-04-05 /pmc/articles/PMC7423004/ /pubmed/33073027 http://dx.doi.org/10.3390/ijns6020031 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Sawada, Takaaki
Kido, Jun
Nakamura, Kimitoshi
Newborn Screening for Pompe Disease
title Newborn Screening for Pompe Disease
title_full Newborn Screening for Pompe Disease
title_fullStr Newborn Screening for Pompe Disease
title_full_unstemmed Newborn Screening for Pompe Disease
title_short Newborn Screening for Pompe Disease
title_sort newborn screening for pompe disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423004/
https://www.ncbi.nlm.nih.gov/pubmed/33073027
http://dx.doi.org/10.3390/ijns6020031
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