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The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
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Newborn Screening for Pompe Disease

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 31;
Received: 19 January 2020 / Revised: 1 April 2020 / Accepted: 2 April 2020 / Published: 5 April 2020
(This article belongs to the Special Issue 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. 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. View Full-Text
Keywords: Pompe disease; newborn screening; pseudodeficiency; genotype-phenotype correlation; treatment and follow-up Pompe disease; newborn screening; pseudodeficiency; genotype-phenotype correlation; treatment and follow-up
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Sawada, T.; Kido, J.; Nakamura, K. Newborn Screening for Pompe Disease. Int. J. Neonatal Screen. 2020, 6, 31.

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