Chiang S.-C.Lee Y.-M.MEI-HWEI CHANGWang T.-R.TSANG-MING KOWUH-LIANG HWU2020-12-162020-12-1620001434-5161https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033942166&doi=10.1007%2fs100380070026&partnerID=40&md5=4d0335a244181ad4b0ce3a971b40016fhttps://scholars.lib.ntu.edu.tw/handle/123456789/526083Glycogen storage disease type Ia (GSD Ia) is caused by a deficiency of glucose-6-phosphatase (G6Pase) activity. Eighteen GSD Ia families were studied for G6Pase gene mutations. Thirty-two mutations were found in 36 GSD Ia chromosomes: 16 were 727 G→T (44.44%); 13 were R83H (327 G→T; 36.11%); 1 was 341delG; 1 was 933insAA; and 1 was 793 G→T. The 727 G→T and R83H mutations together accounted for 80.56% (29/36) of the GSD Ia chromosomes. These two mutations were easily examined by polymerase chain reaction-based methods, and the prenatal diagnosis of a non-affected fetus was successfully made. The 727 G→T mutation is the predominant mutation in Japanese GSD Ia patients, but is rarely seen in Western counties. The 727 G→T mutation is also the most prevalent mutation in Taiwan Chinese, although the incidence is not as high as in Japan.[SDGs]SDG3amino acid; DNA; glucose 6 phosphatase; polypeptide; article; Chinese; chromosome; clinical article; enzyme activity; female; gene; gene mutation; glycogen storage disease type 1; human; male; polymerase chain reaction; restriction fragment length polymorphism; Taiwanjournal article10.1007/s100380070026109448472-s2.0-0033942166