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

[fôn gir′kəz]
Etymology: Edgar von Gierke, German pathologist, 1877-1945
a form of glycogen storage disease in which abnormally large amounts of glycogen are deposited in the liver and kidneys. The disorder is characterized by hypoglycemia, metabolic acidosis, dyslipidemia, and hepatomegaly. Biopsy of the affected organs reveals the absence of glucose-6-phosphatase, an enzyme necessary for glycogen metabolism. There is no effective treatment for the disorder. Medical efforts are directed at preventing hypoglycemia and acidosis. Also called glycogen storage disease, type Ia. See also glycogen storage disease.

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).

von Gierke's disease

see glycogenosis type I.

Gierke's disease, von Gierke's disease

see glycogenosis type I.
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.