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Friday, April 18, 2008

Gaucher Disease

Introduction: Gaucher Disease

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

See full list of 26 symptoms of Gaucher Disease

Medical Textbooks Online about Gaucher Disease

16 MEDICAL BOOKS ONLINE! Full text.
Free access (no registration).

Gaucher's disease

  • "Professional Guide to Diseases (Eighth Edition)"

Book excerpts: Copyright © 2007 Lippincott Williams & Wilkins. All rights reserved.

Wrongly Diagnosed with Gaucher Disease?

Causes of Gaucher Disease

Read more about causes of Gaucher Disease.

Treatments for Gaucher Disease

Read more about treatments for Gaucher Disease

Videos for Gaucher Disease

Your Rights as a Patient

Your Rights as a PatientWhenever you go to a hospital or clinic for a major procedure or diagnostic test, one of the many forms you are given to sign is an "informed...

Protecting from Infection

Protecting from InfectionGerms are a fact of life and catching an infectious disease like a cold may seem inevitable. But there are simple ways to protect yourself against...

Stress Reduction

Stress ReductionStress takes its toll by making us anxious, depressed and not able to function as fully as we'd like. What many don't know is that stress can...

Poor Sleep's Effect on Health

Poor Sleep's Effect on HealthSleep is necessary to feel refreshed, but now we know sleep actually impacts the way the body functions. Sleeping poorly can affect how often you get...

Patient Surveys for Gaucher Disease

Prognosis for Gaucher Disease

Prognosis for Gaucher Disease: There is no permanent cure for Gaucher’s. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

More about prognosis of Gaucher Disease

Reseach 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:

See full list of 24 Clinical Trials for Gaucher Disease

Statistics for 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

Read more about Types of Gaucher Disease

Medical Guidebooks and Ebooks for Gaucher Disease

See all guides and ebooks for Gaucher Disease

Stories from Users Related to Gaucher Disease

Related forums and stories:

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)

Gaucher’s 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)

Wiki article about Gaucher Disease

See full article about Gaucher Disease

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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