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.
Enzyme or hormone deficiencies cause many metabolic diseases, such as type I diabetes, phenylketonuria (PKU), or von Gierke's disease (impaired glycogen storage).