Glycogen storage disease type 1b : clinical and biochemical aspects and implications for treatment

Glycogen Storage Disease type 1 is caused by a deficient function of glucose-6-phosphatase. In the most likely model for the function of glucose-6-phosphatase, glucose-6-phosphatase consists of a catalytic subunit, glucose-6-phosphatase, with one or more membrane transporters. The catalytic subunit is situated on the luminal surface of the endoplasmatic reticulum to which substrates gain access by transporter(s). GSD-1a is caused by defects in the catalytic unit, the actual glucose-6-phosphatase. Defects of the transporters were named GSD-1b, GSD-1c and GSD-1d and were identified by deficient G6Pase activity in a hepatic microsomal preparation, which increases after disruption of liver microsomes by a detergent.

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