Geometry.Net - Health_Conditions: Gauchers Disease

Gaucher's Disease Information Page National Institute Of
Gaucher's Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
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Gaucher Disease
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Gaucher Disease
To advise and provide information about gauchers disease to families affected by it, specialist advisors and the general public
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Gaucher Disease
A description of this disease and who gets it. A number to call for possible free testing.
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Childrens Gauchers Disease Research Fund - Www.childrensgaucher.org
Children's gauchers disease Research Fund P.O. Box 2123, Granite Bay, California 957462123 USA research@childrensgaucher.org
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GAUCHER DISEASE Contact A Family - For Families With Disabled
printer friendly GAUCHER DISEASE search this site home how we can help GAUCHERS ASSOCIATION. Mrs Susan Lewis Gauchers
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Worldbook Medical Encyclopedia Gait - Gynecomastia Gauchers
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Gauchers Disease Information And Resources Online At The Drug
gauchers disease Information and Resources Online Find Useful Websites and Articles on gauchers disease at The Drug Database
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PELVIS (Patologicas)
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Genzyme Australasia: Gaucher Disease Explained Simply
Gaucher disease explained in simple terms. What is gauchers disease? How does Gaucher affect you? How do you get it? How is Gaucher diagnosed?
http://www.genzyme.com.au/public/gd_explained.htm

Extractions: explained What is Gaucher disease? Gaucher disease is an inherited disorder caused by a deficiency of an important enzyme in the body called glucocerebrosidase. Normally found inside a compartment of the cell (the lysosome), b -glucocerebrosidase breaks down a particular glycolipid (fatty substance) called glucocerebroside, sometimes known as glucosylceramide. In people with Gaucher disease, as a result of glucocerebrosidase deficiency, glucosylceramide collects in scavenger cells (macrophages) of the body. Cells containing this undigested lipid become swollen. These cells, called Gaucher cells, most commonly accumulate in the liver, spleen and bone marrow. It is the accumulation of Gaucher cells that causes the symptoms of the disease. Top of Page There are 3 types of Gaucher disease - Types 1, 2 and 3. These were named in the order they were first described by doctors and can vary quite markedly in signs and symptoms. Type 1 Gaucher disease is by far the most common form of Gaucher disease. Patients with Type 1 Gaucher disease can display a wide variation of clinical signs - even brothers and sisters with Gaucher disease can be affected very differently. The table below shows some of the signs and symptoms of Type 1 Gaucher disease.
GAUCHERS DISEASE // Medical-Conditions.org // Medical Conditions
gauchers disease information and medical glossary at MedicalConditions.org.
http://www.medical-conditions.org/?q=Gauchers Disease
Gaucher S Disease
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/GAUCHERS DISEA

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Gaucher's disease, (Phillippe Charles Ernest Gaucher, 18541918, French physician), an autosomal recessive disorder of cerebroside metabolism characterized by accumulation of abnormal amounts of lipid in reticuloendothelial cells and accumulation of these Gaucher cells in various body tissues. For a general description, see Gauchers disease Three clinical forms of Gaucher's disease are distinguished. Type 1 is a chronic non-neuronopathic form, most frequent in Ashkenazic Jews. Type 2 is an acute neuronopathic disease, involving a fatal neurodegenerative disorder. Type 3 is a subacute neuronopathic (juvenile) form with neurologic and skeletal manifestations appearing in childhood or adolescence. On radiographs, infiltration of the bone marrow with Gaucher cells is characterized by increased radiolucency of bone and cortical scalloping and thinning. Geographic or motheaten patterns of bone destruction may be seen in focal osteolytic lesions. The spine may show osteopenia or osteolysis of the vertebral bodies, multiple compression fractures, kyphosis and spinal cord compression. Vertebra plana may occur owing to compression and fracture of vertebral bodies. In addition, trabecular destruction and thinning of both the outer and inner tables of the calvaria may be present. Other abnormalities include fractures of the ribs, tubular bones of the appendicular skeleton and femoral neck, with
Gaucher S Disease
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/GAUCHERS DISEASE

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Gaucher's disease, (Phillippe Gaucher, 18541918, French physician and dermatologist), an autosomal recessive condition involving congenital deficiency of the enzyme glucocerebroside with resultant excess of glucocerebroside in reticuloendothelial (Gaucher) cells which accumulates in the bone marrow, liver, spleen and lymph nodes. Three subtypes have been identified but 99% of cases represent type I, which has a wide range of severity. In type I, the age of onset varies from early childhood to late adulthood but most symptomatic patients present by adolescence. Those children who present before the age of 10 years generally have more severe and progressive disease. Typically, the child presents with easy bruising, lethargy, hepatosplenomegaly and bone pain. Radiological features of bone involvement are seen in the majority of children and may include the characteristic Erlenmeyer flask deformity 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.
Homepage - Babies With Type 2 Neuronopathic Gauchers Disease
A site for parents of babies with Type 2 gauchers disease in Australia and New Zealand.
http://members.optusnet.com.au/~mkgregory/gaucher/

Extractions: 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. In particular, it is aimed at affected families who live in Australia and New Zealand It is our wish that anyone, no matter where they might live, will find the material here helpful in understanding the plight of these children... particularly if they currently find themselves caring for, and loving deeply, a child that has been diagnosed with this terrible disease. The most difficult thing a parent can face, is being told that 'your baby is going to die' . As well as having to live with the inevitability of such a fact, there is also the nightmare of watching the suffering your baby goes through, and realising that there is nothing you can do about it. The rate of occurrence of such a disease in Australia is miniscule compared to diseases like cancer... but with cancer, there is always the hope of successful treatment and remission. Currently with Type 2 Gauchers Disease, there is no hope at all. The 'About' section gives a little background detail regarding the disease and what it does to a small child.
Background On Type 2 Gauchers
A site for parents of babies with Type 2 gauchers disease in Australia and New gauchers disease is an inherited disorder. Children with Type 2 lack an
http://members.optusnet.com.au/~mkgregory/gaucher/about.html

Extractions: What is Type 2 Gauchers Disease? From the UK Gauchers Association website, comes the following definition of Type 2 Gauchers Disease: "Gauchers disease is an inherited disorder. Children with Type 2 lack an important enzyme called glucocerebrosidase . This enzyme deficiency results in the accumulation of a fatty substance (glucocerebroside) which is normally produced during the recycling of cells in the body but is then broken down by the enzyme. "The human body contains specialised cells called macrophages. Macrophages contain lysosomes where enzymes degrade worn-out cells into simple molecules for recycling. The enzyme glucocerebrosidase is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide. "Babies with Type 2 Gauchers disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebroside. Instead, the glucocerebroside remains stored within the macrophages, preventing them from functioning normally. Enlarged macrophages, containing undigested glucocerebroside, are called Gauchers cells. These cells are the hallmark of the disease and will be found in the bone marrow, spleen, liver and brain. How does the baby contract it?
Charity Glossary
gauchers disease Gauchers Association 25 West Cottages, London NW6 1RJ Provides information about gauchers disease and circulates latest developments to
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ALGLUCERASE
Severe manifestations of Type 1 gauchers disease include 1or more of the following conditions Current Issues in Enzyme Therapy for gauchers disease.
http://www.keele.ac.uk/depts/mm/MTRAC/ProductInfo/summaries/A/ALGLUCERASEs.html

Extractions: ALGLUCERASE SUMMARY SHEET TRADE NAME: Ceredase Licensed Indications: Moderate to severe anaemia after exclusion of other causes such as iron deficiency. Thrombocytopenia with bleeding tendency. Bone disease after exclusion of other causes such as vitamin D deficiency. Background Information Gauchers disease (GD) is an inherited (autosomal recessive) lipid storage abnormality in which the enzyme, glucocerebrosidase, is deficient. This results in the accumulation of the lipid, glucocerebroside, within macrophages which become very enlarged and known as Gauchers cells. These are typically found in the liver, spleen and bone marrow. The manifestation of disease symptoms is very variable ranging from very mild to extremely severe. The main characteristics seen are hepatosplenomegaly, bleeding disorders and bone disease. In addition to these key disease characteristics, other body systems, eg pulmonary, cardiac, renal and gastrointestinal can be affected. Fatigue is particularly common. GD has been classified as three types. Type 1 is the most prevalent form of the illness accounting for approximately 99% of cases. It develops in childhood/adulthood but often remains undiagnosed with symptoms mild or absent. Type 2 disease is characterised by severe neurological involvement in infancy. It usually results in death within the first 2 years of life. Type 3 disease
ALGLUCERASE
Severe manifestations of Type 1 gauchers disease include one or more of the gauchers disease is a rare condition. The need for alglucerase treatment
http://www.keele.ac.uk/depts/mm/MTRAC/ProductInfo/verdicts/A/ALGLUCERASEv.html

Extractions: ALGLUCERASE Intravenous Infusion TRADE NAME: CEREDASE MANUFACTURER: Genzyme Date of Launch: 1995 Pharmacological class: Glucocerebrosidase enzyme BNF Section: 9.8.1 Licensed Indications: Moderate to severe anaemia after exclusion of other causes such as iron deficiency. Thrombocytopenia with bleeding tendency. Bone disease after exclusion of other causes such as vitamin D deficiency. Committee's Recommendations Clinical Evidence Clinical trials with alglucerase treatment have been predictably small due to the rarity of Gauchers disease. These have demonstrated that alglucerase treatment (by intravenous infusion) ameliorates or normalises the typical disease manifestations associated with severe type 1 Gauchers disease. Safety There is insufficient evidence of safety with alglucerase due to limited clinical experience. Long term safety data are lacking. Verdict Additional Information including Economic Considerations: Alglucerase is considered the treatment of choice for patients with severe type 1 Gauchers Disease. The optimum dose which balances cost and benefit is yet to be defined.
GauchersAssociation
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).
http://www.eyeconditions.org.uk/GauchersAssociation.asp

Extractions: Tel: 0207 433 1121 Fax: 0207 431 5883 Opening hours: 10 a.m. to 5.30 p.m. Monday to Friday (24 hour ansaphone) E-Mail: Tanya@collin-histed.freeserve.co.uk Website: http://www.gaucher.org.uk Definition of conditions covered: Gauchers Disease Type 1, 2 and 3. Gauchers Disease is a rare genetic disease in which the body lacks a chemical or enzyme called glucocerebrosidase. This enzyme normally breaks down a fatty waste product called glucocerebroside. Without the enzyme, glucocerebroside accumulates in the body, mostly in the liver, spleen, and to a lesser extent in the bones, lungs and other organs. In some people, glucocerebroside accumulates in the nervous system in addition to the other areas. Such patients are said to have Neuronopathic Gauchers Disease (NGD). Type 1 GD is referred to as non-neuronopathic, while type 2 and 3 are referred to as neuronopathic forms. Sufferers of Neuronopathic Gauchers Disease have an eye movement problem called 'oculomotor apraxia' or 'saccade initiation failure'. There are several practical problems that may arise as a result of these abnormal eye movements. e.g. the sufferer is unable to look from side to side quickly, therefore they are particularly vulnerable in a crowd, crossing the road etc. In children this eye abnormal eye movement will have significant educational issues
The Canadian Society For Mucopolysaccharide Related Diseases Inc.
Profile gauchers disease, Symptoms or effects with a line under them mean that there is information related to Symptoms and Effects of gauchers disease
http://www.mpssociety.ca/display_diseases.php?uid=24

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