Von Gierke Disease: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys. More detailed information about the symptoms, causes, and treatments of Von Gierke Disease is available below.
See full list of 22 symptoms of Von Gierke Disease
Read more about complications of Von Gierke Disease.
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Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. - (Source - Diseases Database)
Von Gierke Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Von Gierke Disease, or a subtype of Von Gierke Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Von Gierke Disease as a "rare disease".
Source - Orphanet
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