Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

@article{Chou2002TypeIG,
  title={Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.},
  author={Janice Y Chou and Dietrich Matern and Brian C Mansfield and Yuan-Tsong Chen},
  journal={Current molecular medicine},
  year={2002},
  volume={2 2},
  pages={121-43}
}
Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia (MIM232200), caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib (MIM232220), caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Both G6Pase and G6PT are associated with the endoplasmic reticulum (ER) membrane. G6PT translocates glucose-6-phosphate (G6P) from the cytoplasm into the lumen of the ER, where… CONTINUE READING