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See Latest ArticlesEmerging therapies for glycogen storage disease type I
Trends in Endocrinology and Metabolism, 06/30/09
Koeberl DD et al. - Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia.
D.D. Koeberl, 06/30/09
| The molecular bases of long-term complications in GSD I have been elucidated through research involving unique animal models and patient samples. These investigations have led to advances in therapy, both palliative using available drugs and potentially curative in the form of gene therapy. These developments have implications for other rare inherited disorders of metabolism and for more common disorders, including diabetes and liver cancer. |
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