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Article

Current status of newborn screening for Pompe disease in Japan

1 Dec 2021

Abstract excerpt

BACKGROUND: Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan from April 2013 to October 2020 to determine the feasibility and utility of NBS for Pompe disease. RESULTS: From the...

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PMID: 34922579
DOI: 10.1186/s13023-021-02146-z

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