Page 166 - Biochemistry2 (08PB403)

Von gierke’s disease

• Von Gierke's disease is caused by a deficiency in
glucose 6-phosphatase, the enzyme that removes the
phosphoryl group from glucose and permits it to be
released from the cell (where it was presumably
stored as glycogen, or synthesized via
gluconeogenesis).

• Passage of the phosphorylated sugar through the cell
membrane is negligible; only the de-phosphorylated
form can be exported.

• Thus, when exercise raises energy demands on the
body, glycogen stores cannot be adequately mobilized
as glucose into the bloodstream to provide the

needed energy. 170