Endocrinology Medical News about glycogen storage disease type I

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Emerging 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.

Exclusive Author Commentary
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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Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition
Clinical Journal of the American Society of Nephrology, 11/16/09 Relevance Score: 93%

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
Muscle & Nerve, 10/20/09 Relevance Score: 87%

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases
Skeletal Radiology, 10/14/09 Relevance Score: 87%

Interleukin-6 and type I interferon-regulated genes and chemokines mark disease activity in dermatomyositis
Arthritis & Rheumatism, 11/12/09 Relevance Score: 80%

Type I Interferons Produced by Resident Renal Cells May Promote End-Organ Disease in Autoantibody-Mediated Glomerulonephritis
Journal of Immunology, 11/09/09 Relevance Score: 80%