title: 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.affiliation: University Children's Hospitals of Bonn and Munich and Medical Immunology Laboratory, Munich, Germany.
authors.forename: K M
authors.initials: KM
authors.lastname: Keller
authors.forename: M
authors.initials: M
authors.lastname: Schütz
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
authors.forename: L
authors.initials: L
authors.lastname: Bindl
authors.forename: M J
authors.initials: MJ
authors.lastname: Lentze
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
mesh_terms: D002675:Child, Preschool; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006529:Hepatomegaly; D006801:Humans; D009154:Mutation
chemical_list: D005952:Glucose-6-Phosphatase