This invention relates to nucleic acid sequences and methods useful for producing recombinant glucose-6-phosphate (G-6-Pase). In addition, the invention relates to specific mutations in the gene encoding human G-6-Pase and methods for detecting the mutations and thus diagnosing the genetic disease that causes glycogen storage disease type 1A.

The United States of America as represented by the Department of Health

The catalytic moiety of the glucose-6-phosphatase system: the gene and protein and related mutations

Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-.alpha. (G6Pase-.alpha.) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-.alpha.. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.

glycogen storage disease/phosphatase

The catalytic moiety of the glucose-6-phosphatase system: the gene and protein and related mutations

Adeno-associated virus vectors encoding modified G6PC and uses thereof

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