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glycogen storage disease Ia |
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glycogen storage disease Ia Glucose-6-phosphatase deficiency, hepatorenal glycogenosis, von Gierke disease Metabolic disease A rare AR disorder of glycogen storage, due to a defect in glucose-6-phosphatase, resulting in glycogen accumulation
primarily in liver and kidney Clinical Hypoglycemia, lipidemia, xanthoma formation, ↑ uric acid, ↑ lactic acid, liver adenomas, which may become malignant, hepatomegaly, bleeding diathesis, vasoconstrictive pulmonary HTN, convulsions,
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