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| eMedicine - Glycogen Storage Disease Type I : Article by Karl S Roth, MD |
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Clinical article covering all aspects of this disease including the pathophysiology, background and the exhibiting symptoms.
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eMedicine - Glycogen-Storage Disease Type I : Article by Karl S Roth, MD
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Glycogen-Storage Disease Type I - In 1929, von Gierke provided the initial description of glycogen-storage disease type I (GSD I) from autopsy reports of 2 children whose large livers contained excessive glycogen. (He also reported similar findings in the kidneys.) Both children had frequent nosebleeds before their deaths, consistent with histories documented in today's patients.In 1952, Cori and Cori reported 6 similar patients. Two had almost total deficiency of hepatic glucose-6-phosphatase, whereas the remaining 4 had normal enzyme activity. ...
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Conditions and Diseases\ Nutrition and Metabolism Disorders
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