A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

Abstract

A 4-year-old German girl was diagnosed as having glycogen storage disease type la and showed no other marked symptoms except hepatomegaly. The glucose-6-phosphatase activity in the liver was approximately 1.5% to 5.0% of normal values, and molecular analysis revealed compound heterozygosity for R83C and the novel mutation N264K. This result indicates that there is a wide clinical variation of glucose-6-phosphatase deficiency. DNA analysis is helpful for confirmation of the diagnosis, as well as establishment of the genotype and phenotype correlation in glycogen storage disease type 1a.

• Authors: K M Keller, M Schütz, T Podskarbi, L Bindl, M J Lentze, Y S Shin
• Journal: The Journal of pediatrics (J Pediatr) Vol. 132 Issue 2 Pg. 360-1 (Feb 1998) ISSN: 0022-3476 [Print] United States
• PMID: 9506659 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glucose-6-Phosphatase

Topics

• Child, Preschool
• Female
• Glucose-6-Phosphatase (genetics)
• Glycogen Storage Disease Type I (genetics)
• Hepatomegaly
• Humans
• Mutation