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, failure to thrive, lordosis

单词	glycogen storage disease ia
释义	glycogen storage disease Ia 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, failure to thrive, lordosis
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