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

doi:10.1016/s0022-3476(98)70463-9

Back to search

Article

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

The Journal of pediatrics - 1 Feb 1998

Keller K M, Schütz M, Podskarbi T, Bindl L, Lentze M J, Shin Y S

Abstract excerpt

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 R...

Topics

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.