Abstract
Glycogen 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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: January 4, 2000 / Accepted: February 28, 2000
Rights and permissions
About this article
Cite this article
Chiang, SC., Lee, YM., Chang, MH. et al. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 45, 197–199 (2000). https://doi.org/10.1007/s100380070026
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380070026
This article is cited by
-
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation
European Journal of Pediatrics (2002)