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Article

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

Current molecular medicine - 1 Mar 2002

Chou Janice Yang, Matern Dietrich, Mansfield Brian C, Chen Yuan-Tsong

Abstract excerpt

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...

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PMID: 11949931
DOI: 10.2174/1566524024605798

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