von Gierke's disease


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Gierke's disease

 [gēr´kez]
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).
References in periodicals archive ?
Glycogenosis type I or Von Gierke's disease, was discovered by German physician Gierke, who studied an 8-year-old girl with chronic increase in liver size.
Patients with type I glycogenosis may be classified into various subtypes, with the most common belonging to those who lack the glucose 6-phosphatase enzyme per se, or Von Gierke's disease (Type I a) (5).
In their study report, the researchers have revealed that the symptoms they observed in the animal subjects resembled those of children born with Von Gierke's disease, a disorder that can create serious problems unless it is recognized early.