Studies in Glycogen Storage Diseases. I. Intestinal Glucose-6-phosphatase Activity in Patients with Von Gierke's Disease and Their Parents.
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منابع مشابه
Secondary metabolic changes in von Gierke's disease (Type I glycogen storage disease).
Deficiency of glucose-6-phosphatase in Type I glycogen storage disease (GSD) results in hypoglycemia and excessive accumulation of glucose-6-phosphate. As a result, lactic acid, uric acid, and lipids are formed as end-products. The formation of these metabolites are discussed with an emphasis on monitoring therapeutic progress. In addition, hyperlipidemia and associated changes in apolipoprotei...
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Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seve...
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A procedure for the determination of liver microsomal glucose-6-phosphatase is described. Homogenization and ultracentrifrigation were used to prepare a precipitate whose character was defined by monitoring the desire enzyme activity which serves as a marker. Activity of the enzyme was determined by means of a sensitive colorimetric reaction for the product, inorganic phosphate. Non-enzymatic h...
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The liver maintains glucose and lipid homeostasis by adapting its metabolic activity to the energy needs of the organism. Communication between hepatocytes and extracellular environment via endocytosis is key to such homeostasis. Here, we addressed the question of whether endosomes are required for gluconeogenic gene expression. We took advantage of the loss of endosomes in the mouse liver upon...
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In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (14). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1). Type II, or Pompe's disease, is characterized clinically by the severity of the disease with cardiovascular complications causing death usually before t...
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ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 44 شماره
صفحات -
تاریخ انتشار 1965