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Gaucher Disease

Gaucher Disease: Introduction

Gaucher Disease: Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Gaucher Disease.

Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. More detailed information about the symptoms, causes, and treatments of Gaucher Disease is available below.

Symptoms of Gaucher Disease

Treatments for Gaucher Disease

  • Enzyme replacement therapy
  • Enzyme replacement therapy (ERT) for Gaucher disease is now available, with most patients receiving recombinant enzyme (imiglucerase [Cerezyme]). This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease
  • more treatments...»

Home Diagnostic Testing

Home medical testing related to Gaucher Disease:

Wrongly Diagnosed with Gaucher Disease?

Gaucher Disease: Related Patient Stories

Gaucher Disease: Deaths

Read more about Deaths and Gaucher Disease.

Types of Gaucher Disease

  • Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
  • Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
  • Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic
  • more types...»

Gaucher Disease: Complications

Review possible medical complications related to Gaucher Disease:

Causes of Gaucher Disease

  • All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency
  • more causes...»

More information about causes of Gaucher Disease:

Disease Topics Related To Gaucher Disease

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

Gaucher Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Gaucher Disease

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion diagnosis. The condition goes...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury ...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia (such as ...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their...read more »

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 chronic hepatitis, ...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the...read more »

Gaucher Disease: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Gaucher Disease: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Gaucher Disease

Medical research articles related to Gaucher Disease include:

Click here to find more evidence-based articles on the TRIP Database

Gaucher Disease: Animations

Prognosis for Gaucher Disease

Prognosis for Gaucher Disease: Many individuals with Gaucher disease have few manifestations and a normal life expectancy without any intervention.

Research about Gaucher Disease

Visit our research pages for current research about Gaucher Disease treatments.

Clinical Trials for Gaucher Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Gaucher Disease include:

Statistics for Gaucher Disease

Gaucher Disease: Broader Related Topics

Gaucher Disease Message Boards

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User Interactive Forums

Read about other experiences, ask a question about Gaucher Disease, or answer someone else's question, on our message boards:

Article Excerpts about Gaucher Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Gaucher's Disease Information Page: NINDS (Excerpt)

Gaucherís disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

Definitions of Gaucher Disease:

An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97) - (Source - Diseases Database)

Gaucher Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Gaucher Disease, or a subtype of Gaucher 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 Gaucher Disease as a "rare disease".
Source - Orphanet

 

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