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Topic: Gauchers disease

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In the News (Sun 21 Apr 19)

  Gaucher's Disease- Health Encyclopedia and Reference
The brain is involved in Types 2 and 3 Gaucher's disease, and newborn babies with Type 2 Gaucher's disease often die at birth.
Gaucher's disease is common in its more mild forms, especially among Jewish persons of Eastern European origin.
Previously, severe cases of Type I Gaucher's disease were treated by spleen removal and bone marrow transplants, both of which carry substantial risks.
drdean.healthcentral.com /encyclopedia/408/270/Gauchers_Disease.html   (519 words)

 Gauchers Disease - Medicine terms   (Site not responding. Last check: 2007-11-04)
The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities.
Gaucher disease is an inherited metabolic disorder that leads to the accumulation of a particular fatty substance throughout the body.
A genetic disorder in which lipids cannot be properly broken down and build up in certain cells; causes enlargement of the spleen and liver, bone damage, and anemia.
www.encyclopedia-wiki.org /encyclopedias/medicine/Gauchers-Disease.html   (152 words)

 Genzyme Australasia: Gaucher Disease Explained Simply   (Site not responding. Last check: 2007-11-04)
Gaucher disease is an inherited disorder caused by a deficiency of an important enzyme in the body called glucocerebrosidase.
It is the accumulation of Gaucher cells that causes the symptoms of the disease.
When one of the parents is a carrier for Gaucher disease (seen in Figure 5 as half red (normal) and half white (defective)) and the other is normal, the chance of a child being a carrier is 50:50.
www.genzyme.com.au /public/gd_explained.htm   (1129 words)

 LetsFind Search Results for gauchers disease   (Site not responding. Last check: 2007-11-04)
Neuronopathic Gauchers disease (Types 2 and 3) was discussed at two overseas meetings: the European Working Group for Gauchers Disease in Jerusalem on 6-9...
Gauchers disease (GD) is an inherited (autosomal recessive) lipid storage abnormality in...
The effects of Gauchers disease on pregnancy, labour and after the baby is born...
www.letsfind.co.uk /transform.php?Keywords=gauchers+disease   (320 words)

 Gaucher Disease, Cincinnati Children's Hospital Medical Center   (Site not responding. Last check: 2007-11-04)
The cardiovascular form of Gaucher disease (type 3) causes build-up of calcium on the heart valves (the flaps of heart tissue that open and close to control the flow of blood through the heart) plus the symptoms of Gaucher disease seen in other forms.
Gaucher disease occurs more frequently in the Ashkenazi Jewish population at a rate of 1 in 450 to 1 in 1000.
Gaucher disease Type 1 is suspected when someone has an enlarged liver and spleen and/or low platelets or hemoglobin.
www.cincinnatichildrens.org /health/info/genetics/diagnose/gaucher.htm   (2064 words)

 Gaucher's Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher 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 sometimes in the brain.
All Gaucher patients exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside.
Gaucher disease is one of several lipid storage diseases.
www.ninds.nih.gov /disorders/gauchers/gauchers.htm   (505 words)

Gauchers disease is a genetically inherited, enzyme deficiency disorder.
The most common form of Gauchers disease (Type 1) affects 1 in 100,000 of the general population but 1 in 850 of Jewish (Ashkenazi) descent, although it is estimated that not all those who inherit the mutated genes will show symptoms.
In the rare Neuronopathic (Types 2 and 3) Gauchers disease, neurological symptoms include an eye movement disorder and possibly ataxia (unsteadiness), fits, loss of skills and a central auditory processing disorder.
www.nursesnetwork.co.uk /medicine/generalmed/02_04_28gauchers.shtml   (191 words)

 Gaucher disease - Genetics Home Reference   (Site not responding. Last check: 2007-11-04)
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues.
Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.
Mutations in the GBA gene cause Gaucher disease.
ghr.nlm.nih.gov /ghr/disease/gaucherdisease   (752 words)

 Gaucher Disease
Gaucher disease is an inherited, enzyme deficiency, disorder.
The most common form of Gaucher disease (Type 1) affects 1 in 100,000 of the general population although it is estimated that not all those who have Gaucher disease will show symptoms.
Gauchers Association is registered as a charity in the United Kingdom.
www.gaucher.org.uk   (216 words)

 Gauchers Disease information. Medical-Issues.com Find Gauchers Disease, Health News, Medical Advances and Drug ...
A disease such as Gauchers Disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
Sometimes the term Gauchers Disease is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
Sometimes whether a condition should be considered a disease or a variation of human structure or function becomes an intensely political controversy because of significant social or economic implications.
www.medical-issues.com /diseases/Gauchers-Disease.php   (1194 words)

 Type 2 Gauchers Disease   (Site not responding. Last check: 2007-11-04)
Type 2 Gauchers disease is a very rare, rapidly progressive form of Gauchers disease which affects the brain (central nervous system) as well as the spleen, liver and bones.
Type 2 Gauchers disease is quite distinct from the chronic non-neurological Type 1 and once a proper diagnosis has been made, no neurological features will develop in the more usual chronic Type 1.
If only one parent is a carrier of Gauchers disease, none of the children will have Gauchers disease but there is a 1 in 2 chance (50%) of the child being a carrier.
www.wisebuy.co.uk /gaucher/type2.htm   (1811 words)

 Neuronopathic Gauchers Disease   (Site not responding. Last check: 2007-11-04)
Neuronopathic Gauchers disease (Types 2 and 3) was discussed at two overseas meetings: the European Working Group for Gauchers Disease in Jerusalem on 6-9 September 2000 and at the National Gaucher Foundation Conference held in Arlington, Virginia on 12-13 November 2000.
He described the symptoms and signs of this type of Gauchers disease ranging from problems with eye movement, severe blood and bone disease in most cases, to progressive neurological involvement causing eventual death in Type 2.
He pointed out that the same area of brain in a Gauchers Type 1 patient with Parkinson's symptoms, was affected as the area of brain in children with neuronopathic disease.
www.wisebuy.co.uk /gaucher/ngd_m00.htm   (672 words)

 Gaucher Disease - UPCMedicalDirectory
Gaucher\'s Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Gaucher Disease is a genetic disorder handed down from generation to generation.
Gaucher Disease, like Tay-Sachs, is an autosomal recessive disorder.
www.upcmd.com /?First=Gaucher+Disease   (325 words)

 Medcyclopaedia - Gaucher's disease   (Site not responding. Last check: 2007-11-04)
On radiographs, infiltration of the bone marrow with Gaucher cells is characterized by increased radiolucency of bone and cortical scalloping and thinning.
Similarly, unusual steplike depressions in the superior and inferior margins of the vertebral bodies (termed an H vertebra) have been described in Gaucher's disease.
Osteonecrosis is well recognized in Gaucher's disease and may involve epiphyses and diaphyses of the long bones, leading to alternating radiolucent areas and sclerosis in association with periostitis and a bone-within-bone appearance.
medcyclopaedia.com /library/topics/volume_iii_1/g/GAUCHERS_DISEASE.aspx   (432 words)

 Medcyclopaedia - Gaucher's disease   (Site not responding. Last check: 2007-11-04)
Radiological features of bone involvement are seen in the majority of children and may include the characteristic Erlenmeyer flask deformity of the distal femur reflecting thinned cortices and dilatation of the medullary cavity.
The much rarer type II Gaucher disease presents in infancy with a rapidly progressive neurodegenerative course and death usually before 2 years of age.
The rare type III Gaucher disease likewise presents predominantly with neurological involvement in childhood; death usually occurs by the age of 15 years.
medcyclopaedia.com /library/topics/volume_vii/g/GAUCHERS_DISEASE.aspx   (342 words)

 Enzyme Treatment - How Does it Work?
Dr Mistry explained at the Gauchers Assocition's Third Conference in February 1997 that there are many gene mutations that result in reduced activity of the enzyme, glucocerebrosidase, which causes Gauchers disease.
Lung disease generally responds poorly to enzyme replacement therapy; it requires very high doses of enzyme but it may be possible to increase sensitivity of lungs to enzyme by giving steroids.
He was found to have Gauchers disease in childhood and at age 20 his spleen was removed.
www.investmentguide.co.uk /gaucher/con_mist.htm   (1254 words)

 Background on Type 2 Gauchers
These cells are the hallmark of the disease and will be found in the bone marrow, spleen, liver and brain.
The Children's Gaucher Research Fund website (see the Links section) has a section on basic genetics, but what it essentially comes down to is that baby received a defective copy of the glucocerebrosidase gene from both mum and dad.
Parkinson's Disease - Studies have found that there are similarities in the brains of sufferers of Parkinson's Disease and Type 2 and 3 Gauchers Disease.
members.optusnet.com.au /~mkgregory/gaucher/about.html   (827 words)

 Gaucher Disease — Links
Gauchers Disease, UK The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gauchers disease.
The mission of The National Gaucher Foundation is to fund research, meet ever-increasing patients' needs, provide education and awareness, develop patient groups and eradicate Gaucher Disease.
The Gaucher Disease Diagnosis and Treatment Program at the University of Pittsburgh Medical Center provides comprehensive care for individuals and families with Gaucher disease.
www.gaucherdisease.com /links.html   (126 words)

 Childrens Gauchers Disease Research Fund - www.childrensgaucher.org
If you are a Gauchers disease Type 2 or Type 3 family, or a physician concerned about Gauchers disease, the Children's Gauchers Disease Research Fund web site can help.
If you are an individual, corporation, or organization interested in donating time or money to help find a cure for Type 2 and Type 3 Gauchers Disease, we invite you to learn about the fund and its founders.
The content on the Children's Gauchers Disease Research Fund Web site is for informational purposes only and should not be used for making medical decisions or as a substitute for speaking with a knowledgeable physician.
www.childrensgaucher.org   (303 words)

 Gaucher disease definition - Medical Dictionary definitions of popular medical terms   (Site not responding. Last check: 2007-11-04)
Gaucher disease: A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body.
The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age.
All 5 types of Gaucher disease are inherited in an autosomal recessive manner.
www.medterms.com /script/main/art.asp?articlekey=20955   (253 words)

 MedlinePlus Medical Encyclopedia: Gaucher disease
Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones.
Gaucher Disease is an inherited disorder that affects an estimated  1 in 50,000 to 1 in 100,000 people in the general population.
The parents are known as carriers since they do not have the disease, but silently harbor one abnormal copy of the gene.
www.nlm.nih.gov /medlineplus/ency/article/000564.htm   (594 words)

 Gaucher Children - Family Stories
Further tests revealed the presence of an unknown substance in her bone marrow, and we were then told that she might have Gauchers Disease.
Type 3 Gauchers Disease sufferers have a gaze palsy, which means that they have a horizontal (sometimes also a vertical) eye movement problem.
Unfortunately parents of children with other rare disorders are in the same position and have to fight a constant battle to ensure that their children are given the necessary help to have a chance at life.
www.childrensgaucher.org /research/familystories/madaline.htm   (1574 words)

 Gaucher Disease
Amicus Therapeutics, a biopharmaceutical company based in New Jersey USA, is developing a series of drugs called small molecule pharmacological chaperones to treat human genetic diseases and is planning to initiate clinical studies of a small molecule chaperone called AT2101 for Gaucher disease in the first six months of 2006.
She was diagnosed with Gaucher disease when she was five.
Please note that anyone who suffers from Gaucher's Disease or thinks they suffer from it should consult a physician who is experienced with dealing with the condition.
www.gaucher.org.uk /contents.htm   (724 words)

 The Blood-Brain Barrier
The presence of the blood brain barrier means that many drugs which are intended to treat central nervous disease have difficulty getting into the brain in the necessary quantity to be effective.
The lack of sufficient enzyme which creates the disease is also lacking in the lysosomes of the brain cells.
Evidence is growing that the blood-brain barrier itself may also become damaged in some lysosomal storage diseases thus contributing to the neurological symptoms, in addition to the problems directly caused by the accumulation of storage products in brain cells.
www.investmentguide.co.uk /gaucher/bloodbrainmay2005.htm   (520 words)

 Homepage - Babies with Type 2 Neuronopathic Gauchers Disease
This site is provided both as a memorial to infant sufferers of Type 2 neuronopathic Gauchers Disease, and as support to the parents who have had to live (and cope) with caring for a dying baby.
If you are a parent of a Gauchers baby, or know of someone who is, or would simply like to know more from people who have dealt first hand with caring for one of these special children, then feel free to email me.
Additionally, the news from March this year mentioned that there may have been one other case of Gauchers in Australia: this turned out to be incorrect, as the specialist I was in contact with was referring to Elsie's family in New Zealand.
members.optusnet.com.au /~mkgregory/gaucher   (640 words)

 Gauchers disease - Gaucher disease Medical Information   (Site not responding. Last check: 2007-11-04)
The association of Gaucher disease, the inherited deficiency of lysosomal Type 2 Gaucher disease culminates in early death as a result of devastating
Gauchers Disease is a rare genetic disease in which the body lacks a chemical or Such patients are said to have Neuronopathic Gauchers Disease (NGD).
Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a
hxya.com /?q=gauchers-disease   (205 words)

 Gaucher's Disease - Treatment and Symptoms
When waste is created in the world, if it is not removed or destroyed, terrible things can happen: diseases fester, rodent populations soar, people sicken and die.
Gaucher 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.
Three clinical forms (phenotypes) of Gaucher disease are commonly recognized.
goldbamboo.com /topic-t2823.html   (151 words)

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