Current status of newborn screening for Pompe disease in Japan

Orphanet Journal of Rare Diseases

Takaaki Sawada¹  Keishin Sugawara¹  Jun Kido¹  Shirou Matsumoto¹  Kimitoshi Nakamura¹  Fumio Endo²  Kanako Kojima-Ishii³  Shouichi Ohga³  Takahito Inoue⁴  Shinichi Hirose⁵  Shinichiro Yoshida⁶  Ken Momosaki⁷ 

[1] Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, 860-8556, Kumamoto City, Kumamoto, Japan;Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, 860-8556, Kumamoto City, Kumamoto, Japan;Kumamoto-Ezuko Medical Center for Disabled Children, Kumamoto, Japan;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan;Department of Pediatrics, Fukuoka University Chikushi Hospital, Fukuoka, Japan;General Medical Research Center, School of Medicine, Fukuoka University, Fukuoka, Japan;KM Biologics Co., Ltd., Kumamoto, Japan;Kumamoto-Ashikita Medical Center for Disabled Children, Kumamoto, Japan;

关键词: Pompe disease;    Newborn screening;    Acid α-glucosidase;    GAA;    Pseudodeficiency allele;    Disease frequency;   

DOI  :  10.1186/s13023-021-02146-z

来源: Springer

【 摘 要 】

BackgroundPompe 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.ResultsFrom the 296,759 newborns whose enzyme activity was measured, 107 of which underwent GAA analysis, we found one patient with infantile-onset Pompe disease (IOPD) and seven with potential late-onset Pompe disease (LOPD). We identified 34 pseudodeficient individuals and 65 carriers or potential carriers. The frequency of patients with IOPD was similar to that in the United States, but significantly lower than that in Taiwan. One patient with IOPD underwent early enzyme replacement therapy within a month after birth before presenting exacerbated manifestations, whereas those with potential LOPD showed no manifestations during the follow-up period of six years.ConclusionsThe frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan.

【 授权许可】

CC BY