A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
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.
Keller
K M
KM
University Children's Hospitals of Bonn and Munich and Medical Immunology Laboratory, Munich, Germany.
Schütz
M
M
Podskarbi
T
T
Bindl
L
L
Lentze
M J
MJ
Shin
Y S
YS
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
D005952:Glucose-6-Phosphatase