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.

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).
Overproduction of purine and hyperuricemia in Von Gierke's disease are secondary effects to the greater generation of the PRPP precursor, ribose-5-phosphate.
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.