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, lordosisMcGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.