What is gaucher disease in a really easy definition?

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I find lots of good sites about gaucher disease but im not sure what it really is and what the words mean. I need an easy definition to help me understand it more.
Gaucher's Disease is a Lysosomal Storage Disease and is an inherited metabolic disorder that results from malfunctions in the cell's lysosome (which breaks down organelles within the cell), caused by a deficiency of the enzyme glucocerebrosidase (responsible for reactions splitting one or more water molecules into hydrogen and hydroxide ions - also called hydrolysis)- leading to an accumulation of its substrate, glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow


(read it with and without the words in parenthesis - I made it easier for you)  (+ info)

Can someone help me about the Gaucher Disease?

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Can this disorder be detected before conception?
has the mutation and the chromosome involved been identified?
what is it like? (externally, internally, biochemically & psychologically)

I cannot find this information & i would really like some help please (:
thank you!
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Is Gaucher's disease a metabolic disorder?

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I need to do a biology project on a metabolic disorder that is caused by a defective enzyme. JUst wondering if Gaucher disease is metabolic. If there are any other metabolic diseases that someone knows that is caused by an enzyme please let me know.
Thanks
Gaucher's is a metabolic disorder. The link below gives a ton of information about it:

http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm

This is a link to a lot of information about metabolic disorders. It gives you the name and cause of each, and is a great source for reliable information:

http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

There are so many disorders that it would take pages to list them all with their description. At the second link I gave, there is a list of specific disorders, and you can click on the name of each to get a short summary of cause and prognosis, then you can go from there, Googling the name of the disorder to get more information if you need it.  (+ info)

How does Gaucher's Disease affect the person who has it?

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Gaucher's is inherited as an autosomal recessive disease, and results in abnormal storage of glucocerebroside in the reticulo-endothelial system, that is, phagocytes in the liver, spleen, bone marrow and lymph nodes. There are three types of Gaucher's disease.

Type 1 begins in childhood with very enlarged spleen and deficiency of many lines of blood cells due to infiltration of the bone marrow. Growth is affected. There is often episodic pain in the bones. Enzyme replacement therapy, bone marrow replacement and gene replacement therapy may offer hope. Many affected persons live into adulthood.

Type 2 begins between 6 - 18 months of age and results in massively enlarged spleen but also with severe deterioration of the brain and nervous system.Death usually results by age two.

Type 3 also begins with spleen and liver enlargement, but also involves the brain and nervous tissue, resulting in imbalance, seizures and developmental regression.

The major medical centers across the country often have centers specializing in treatment of patients with Gaucher's disease.  (+ info)

Does anybody have or know where I can find a powerpoint presentation on gaucher's disease?

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Gaucher's disease is a sphingolipidosis resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds. Symptoms and signs vary by type but are most commonly hepatosplenomegaly or CNS changes. Diagnosis is by enzyme analysis of WBCs.  (+ info)

what happens to people with gaucher disease type 2 that don't get treated?

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i have been getting treated since i was 2 but now there's not enough medication im 19
I am interested in the answer also! I also have Gaucher Disease and will not have medication due to the temporary shortage. I plan on resting when I can along with MDS to help with the pain. My thoughts and prayers are with you during this uncertain time.  (+ info)

WHY is it important to fund rare diseases? Specifically Gaucher's disease.?

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Where can I find pictures of Gaucher's disease ?

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http://www.amersham-health.com/medcyclopaedia/Images/Volume%20III%201/thumbnails/GAUCHERS_DISEASE_FIG01_t.JPG  (+ info)

Is gaucher disease noticeable?

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I need it quickly and if u have any more interesting facts about it can you put that down to? thanks soooo much!! :)
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How rare is Gaucher Disease i have it and i have never found out how rare it is.?

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i have type 2 it was found when i was a baby and now i have portacath my splean was huge i looked fat but now i have enzyme treatment...YaY!!
i have type 1
Gaucher disease has three common clinical subtypes.

* Type I (or nonneuropathic type) is the most common form of the disease, occurring in approximately 1 in 50,000 live births.

* Type II (or acute infantile neuropathic Gaucher disease) typically begins within 6 months of birth and has an incidence rate of approximately 1 in 100,000 live births.

* Type III (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood, and occurs in approximately 1 in 100,000 live births..  (+ info)

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