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Von Gierke Disease

Von Gierke Disease: Introduction

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.

Symptoms of Von Gierke Disease

Home Diagnostic Testing

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Wrongly Diagnosed with Von Gierke Disease?

Von Gierke Disease: Related Patient Stories

Von Gierke Disease: Deaths

Read more about Deaths and Von Gierke Disease.

Von Gierke Disease: Complications

Read more about complications of Von Gierke Disease.

Causes of Von Gierke Disease

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Disease Topics Related To Von Gierke Disease

Research the causes of these diseases that are similar to, or related to, Von Gierke Disease:

Misdiagnosis and Von Gierke Disease

Chronic liver disease often undiagnosed: One study reported that 50% of patients with a chronic liver disease remain undiagnosed by their primary physician. The reasons are multifactorial. Possible conditions include ...read more »

Von Gierke Disease: Research Doctors & Specialists

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Evidence Based Medicine Research for Von Gierke Disease

Medical research articles related to Von Gierke Disease include:

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Von Gierke Disease: Animations

Research about Von Gierke Disease

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Statistics for Von Gierke Disease

Von Gierke Disease: Broader Related Topics

User Interactive Forums

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Definitions of Von Gierke Disease:

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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