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单词 von gierke's disease
释义

von Gierke's disease


von Gierke's disease

[fȯn ′gir·kēz di‚zēz] (medicine) A form of glycogenosis characterized by marked diminution in or absence of hepatic glucose-6-phosphatase, resulting in hepatic glycogenosis, hypoglycemia, and acidosis. Also known as glycogen storage disease; hepatic glycogenosis; type I of Cori; van Crevald-von Gierke's disease.

von Gierke's disease


Gierke's disease

 [gēr´kez] glycogen storage disease" >glycogen storage disease (type I), a condition in which deficiency of the hepatic enzyme glucose-6-phosphatase results in liver and kidney involvement, with hepatomegaly, hypoglycemia, hyperuricemia, and gout. Called also von Gierke's disease and hepatorenal glycogenosis.

von Gierke's disease

Glycogen 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 disease

A 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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更新时间:2025/2/7 3:35:00