Researchers found that the frequency of infantile-onset Pompe disease is similar in Japan to the US and that newborn screening should therefore also be conducted in Japan, as published in the Orphanet Journal of Rare Diseases.

Pompe disease is a rare genetic disorder characterized by the deficiency or complete absence of the lysosomal acid alpha-glucosidase (GAA) enzyme, which is responsible for cleaving glycogen into glucose due to mutations in the gene. This results in glycogen accumulation inside cells causing a wide range of complications.

Enzyme replacement therapy is a disease-modifying treatment that has been approved to treat Pompe disease, where the defective or missing enzyme is provided to the body from the outside.

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Enzyme replacement therapy can be given to patients with a confirmed diagnosis of infantile or late-onset Pompe disease, according to guideline recommendations. However, newborn screening is the best way to diagnose Pompe disease so that treatment can start early, the authors said. 

Read more about Pompe disease guidelines

A team of researchers led by Kimitoshi Nakamura, MD, PhD, from Kumamoto University in Japan conducted a study between April 2013 and October 2020 to determine the feasibility and utility of newborn screening for Pompe disease in Japan. For the study, they measured the activity of the GAA enzyme in 296,759 newborns and analyzed the GAA gene in 107 of them. 

They found that of these newborns, 1 had infantile-onset Pompe disease and 7 had potential late-onset Pompe disease. The newborn screening also identified 34 patients who were pseudodefcient in the GAA enzyme and 65 patients who were carriers or potential carriers of the disease. 

The patient with infantile-onset Pompe disease received enzyme replacement therapy within a month of birth which meant their condition did not worsen. “This indicates that newborn screening for Pompe disease may also be useful in Japan,” the researchers concluded.


Sawada T, Kido J, Sugawara K, et al. Current status of newborn screening for Pompe disease in Japan. Orphanet J Rare Dis. 2021;16(1):516. doi:10.1186/s13023-021-02146-z