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Diseases » Von Gierke Disease » Summary
 

What is Von Gierke Disease?

What is Von Gierke Disease?

  • 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.
  • 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

Von Gierke Disease: Introduction

Types of Von Gierke Disease:

Broader types of Von Gierke Disease:

How serious is Von Gierke Disease?

Complications of Von Gierke Disease: see complications of Von Gierke Disease

What causes Von Gierke Disease?

Causes of Von Gierke Disease: see causes of Von Gierke Disease

What are the symptoms of Von Gierke Disease?

Symptoms of Von Gierke Disease: see symptoms of Von Gierke Disease

Complications of Von Gierke Disease: see complications of Von Gierke Disease

Can anyone else get Von Gierke Disease?

More information: see contagiousness of Von Gierke Disease
Inheritance: see inheritance of Von Gierke Disease

Von Gierke Disease: Testing

Diagnostic testing: see tests for Von Gierke Disease.

Misdiagnosis: see misdiagnosis and Von Gierke Disease.

How is it treated?

Doctors and Medical Specialists for Von Gierke Disease: Medical Geneticist ; see also doctors and medical specialists for Von Gierke Disease.
Treatments for Von Gierke Disease: see treatments for Von Gierke Disease
Research for Von Gierke Disease: see research for Von Gierke Disease

Name and Aliases of Von Gierke Disease

Main name of condition: Von Gierke Disease

Other names or spellings for Von Gierke Disease:

Glucose-6-phosphatase deficiency, Hepatorenal form of glycogen storage disease, Glycogen storage disease 1 (GSD), Hepatorenal glycogenosis, Glycogen storage disease type 1A, Glycogen storage disease I, Glucose-6-phosphate translocase deficiency, G6P translocase deficiency, Glycogen storage disease 1 ( GSD I), Glycogen storage disease type IA

Glycogenosis type 1a, Glucose-6-phosphatase deficiency, Glycogen storage disease type 1a Source - Diseases Database

Glucose-6-phosphatase deficiency, Glycogen storage disease 1 ( GSD I), Glycogen storage disease type IA, Hepatorenal form of glycogen storage disease, Hepatorenal glycogenosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Von Gierke Disease: Related Conditions

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

 

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