单词 | von gierke's disease |
释义 | von Gierke's diseasevon Gierke's disease[fȯn ′gir·kēz di‚zēz]von Gierke's diseaseGierke's disease[gēr´kez]von Gierke's diseaseGlycogen storage disease–type Ia, glucose-6-phosphatase deficiency Pediatrics A rare AR metabolic 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. See Glycogen storage disease.von Gierke's diseaseA form of glycogen storage disease caused by a genetically induced deficiency of the enzyme glucose-6-phosphatase. The condition features obesity, enlargement of the liver and kidneys, poor muscles, OSTEOPOROSIS, stunted growth and a round, doll-like face. Attacks of HYPOGLYCAEMIA occur and these may be fatal. Treatment is necessary from birth and involves a special diet to maintain the level of blood sugar. (Edgar Otto Conrad von Gierke, 1877–1945, German pathologist). |
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