von Gierke's disease


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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.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Absence of the SRC-2 coactivator results in a glycogenopathy resembling Von Gierke's disease. Science 2008; 322: 1395-9.
The object of this presentation is to report the cases of two siblings with different clinical and biochemical manifestations of glycogenosis, which because of its characteristics corresponds to the type I or Von Gierke's disease. Photographs were taken after securing a signed informed consent, as registered in the clinical histories of both child patients, to document that exposed by the physical exam.
According to the researchers, this finding has implications for a genetic disease called Von Gierke's disease and potentially adult-onset diabetes.