National MPS Society - MPS III: Sanfilippo Syndrome sanfilippo syndrome is a mucopolysaccharide disorder and is also known respectively as MPS III. A Guide to Understanding sanfilippo syndrome. http://www.mpssociety.org/mps3.html
Extractions: Home MPS III Sanfilippo syndrome is a mucopolysaccharide disorder and is also known respectively as MPS - III. It takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963. Mucopolysacchrides are long chains of sugar molecule used in the building of connective tissues in the body. "saccharide" is a general term for a sugar molecule (think of saccharin) "poly" means many "muco" refers to the thick jelly-like consistency of the molecules There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with Sanfilippo syndrome are missing an enzyme which is essential in cutting up the used mucopolysacchrides called heparan sulfate. The incomplete broken down mucopolysacchrides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disorder, but as more and more cells become damaged, symptoms start to appear. N ew informative booklets are now available detailing the mucopolysaccharide disorders. These booklets are designed to be a day to day living guide for the MPS family and provide much insight as to the natural progression of the disorders in a positive and helpful manner. The booklets are also designed to be a tool for the professional who will encounter MPS children and their families.
Welcome was formed by Kirby s parents in 1995 to fund medical research and find a cure for sanfilippo syndrome and other neurogenetic disorders. http://www.curekirby.org/
Extractions: LATE BREAKING NEWS........To date, this not-for-profit Foundation has granted over 2.1 million dollars Thirteen-year-old Kirby Wilson was diagnosed with Sanfilippo "B" Syndrome, a rare and catastrophic genetic disorder in 1995, at the age of four. Kirby and thousands of afflicted children like her have a life expectancy of between 10 and 15 years. There is no cure or treatment... yet. The Children's Medical Research Foundation, Inc. was formed by Kirby's parents in 1995 to fund medical research and find a cure for Sanfilippo Syndrome and other neuro-genetic disorders. To date, the not-for-profit Foundation has funded research at seven universities, with more than 95% of all receipts appropriated to fund research. We invite you to learn more about Sanfilippo Syndrome, the Foundation, its work and how to help pave the way for a healthy future for Kirby and others like her. Questions or problems regarding this web site should be directed to curekirby@sbcglobal.net
Welcome To Julia's Hope A nonprofit organization established to promote research toward a cure for sanfilippo syndrome, Type A, and related disorders in children. http://juliashope.org
Special Child: Disorder Zone Archives - Sanfilippo Syndrome sanfilippo syndrome. Introduction. sanfilippo syndrome is a rare genetic disorder characterized defects, and behavioral problems. sanfilippo syndrome, also considered a genetic error http://www.specialchild.com/archives/dz-034.html
Extractions: Archives Sanfilippo Syndrome Introduction Sanfilippo syndrome is a rare genetic disorder characterized by mental deterioration, mild physical defects, and behavioral problems. Sanfilippo syndrome, also considered a genetic error of metabolism, is a mucopolysaccharide disorder and is referred to as MPS - III. Mucopolysaccharides are long chains of sugar molecules which are used in building connective tissue. Typically, when the body is finished using these sugar molecules, it breaks them down with enzymes and disposes of them. Children with Sanfilippo syndrome, however, are missing the enzyme to breakdown the molecules and instead store them in cells in their body. The storage of these molecules then causes progressive damage. As a result, infants may not show signs of the disorder, but as the child grows and more cells become damaged, the symptoms become more obvious and worsen. There are four different enzyme deficiencies that cause Sanfilippo syndrome, therefore, the syndrome is classified as being either type A,B,C, or D. Type A is caused by a deficiency of the enzyme known as heparan sulfatase and is the most severe type with earlier onset and earlier death than the others. Type A is also the most common form of Sanfilippo syndrome. Type B is the second most common, and is the result of a deficiency of the enzyme known as N-acetyl-alpha-D-glucosaminidase (NAG). Type C is caused by a deficiency in acetyl CoA: a-glucosamine N acetyl transferase and type D is caused by a deficiency in N acetyl glucosamine 6-sulphate sulphatase.
What Is Sanfilippo Syndrome sanfilippo syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. http://www.curekirby.org/aboutsan.htm
Extractions: What is it? Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death by age of 10-15 years. There is no cure, yet. Sanfilippo Syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. The Sanfilippo disorders are described as type A, B, C, or D. There is very little difference between the four types, though there have been a few very mild cases of the B form reported where the children have remained relatively healthy into early adult life. Kirby is Not Alone While it is estimated that Sanfilippo occurs once in 24,000 births, every year thousands of children are diagnosed with one of more than 5,000 rare genetic disorders. Many more are not diagnosed. Successful research into Sanfilippo will apply directly to many of these rare conditions. There is No Cure Yet... Only Hope
What Is Sanfilippo Syndrome Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar no cure, yet. sanfilippo syndrome is one of seven Mucopolysaccharide (MPS) disorders http://www.curekirby.com/aboutsan.htm
Extractions: What is it? Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death by age of 10-15 years. There is no cure, yet. Sanfilippo Syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. The Sanfilippo disorders are described as type A, B, C, or D. There is very little difference between the four types, though there have been a few very mild cases of the B form reported where the children have remained relatively healthy into early adult life. Kirby is Not Alone While it is estimated that Sanfilippo occurs once in 24,000 births, every year thousands of children are diagnosed with one of more than 5,000 rare genetic disorders. Many more are not diagnosed. Successful research into Sanfilippo will apply directly to many of these rare conditions. There is No Cure Yet... Only Hope
Ben's Dream - The Sanfilippo Research Foundation Information about a foundation dedicated to increasing awareness of sanfilippo syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. http://www.bensdream.org
MedlinePlus Medical Encyclopedia: Sanfilippo Syndrome sanfilippo syndrome. In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm
Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Alternative names Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Definition Return to top Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Causes, incidence, and risk factors Return to top Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life.
Medical Encyclopedia: Sanfilippo Syndrome (Print Version) Medical Encyclopedia sanfilippo syndrome. In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.nlm.nih.gov/medlineplus/print/ency/article/001210.htm
Extractions: To close this window, click on the "x" in the upper right hand corner of the window. URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm Alternative names Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Definition Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes. Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Causes, incidence, and risk factors Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe mental retardation, stiff joints, gait disturbances, speech disturbances, and behavioral problems.
Helpachild.net :: Help Save The Bennett Children Founded by parents of three young children who suffer from sanfilippo syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support. http://www.helpachild.net
Extractions: Ciara and Hunter need your help! Ciara and Hunter Bennett both have Sanfilippo Syndrome and are missing an enzyme that normally breaks down sugars in the blood. As sugars accumulate throughout the cells in their bodies, they interfere with normal functioning and cause progressive damage to the brain, heart, lungs, muscles, and all body cells. Sanfilippo children have a life expectancy of 10-13 years and there is no cure. Duke University Children's Center in North Carolina has a new treatment that may help Ciara and Hunter and they've invited the Bennetts to participate. We urgently need to raise $4,000 for the trip. Please help with even a small contribution or a fundraiser! John and Alicia Bennett are an average American couple who learned in 2002 that all three of their young children were afflicted with Sanfilippo Syndrome, a degenerative genetic disorder that is usually fatal before the teens ( KXTV VIDEO Their daughter Ciara is 8 years old now, and son Hunter is 6. The family is doing their best to go on without their youngest, 4-year old son Tommy, who lost his life to complications from a transplant procedure that offered hope.
Sanfilippo Syndrome Piano Music Discover a truly Original, Piano CD from Piano Music's newest artist, c. donavan. What is sanfilippo syndrome? Sanfilippo "B" Syndrome is a rare and catastrophic genetic disorder http://www.atticusmusic.com/sanfilippo_syndrome.html
Extractions: What can be done? Right now, doctors can do little for Sanfilippo's symptoms and nothing to stop the progression of the disease. Only a handful of researchers are working on Sanfilippo, but an organization called The Children's Medical Research Foundation has done an enormous amount of work to raise awareness, and more importantly, funds for research. To date, they have raised nearly 2 million dollars, and subsequently, have drawn many more scientists to this field of study.
Sanfilippo Syndrome sanfilippo syndrome. Who to Contact Site Index. sanfilippo syndrome Type A. sanfilippo syndrome type A (mucopolysaccharidosis http://www.ggc.org/Diagnostics/Molecular/sanfilippo_syndrome.htm
Extractions: Who to Contact Site Index Sanfilippo syndrome type A (mucopolysaccharidosis IIIA) is an autosomal recessive lysosomal storage disease caused by a deficiency of heparin sulfamidase. This enzyme is required for the normal catabolism of heparan sulfate, and storage of partially degraded heparan sulfate in the patients cells is believed to result in the clinical phenotype. Mutational analysis of the heparan sulfamidase gene (SGSH) detects between 80 - 90% of the causative mutations in enzymatically diagnosed patients. Identification of the causative mutation/s in the proband can facilitate carrier detection in interested family members. Specimen requirements : 5 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information. Transport : Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. However, our lab does accept specimens on Saturdays.
Extractions: Web Directory: Ben's Dream Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. Bennett Children's Foundation Founded by parents of three young children who suffer from Sanfilippo Syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support.
Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Acetyl-CoA Alpha-Glucosaminide N-Acetyltransferase Deficiency (Type IIIC), Heparan Sulfate Sulfatase Deficiency (Type IIIA), Mucopolysaccharidosis Type III (Subtypes A - B - C - D), N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency (Type IIID), N-Acetylglucosaminidase Deficiency (Type IIIB) Definition Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide.
Sanfilippo Syndrome sanfilippo syndrome. Definition This substance is called heparan sulfate, and in sanfilippo syndrome, large amounts of it are excreted in the urine. http://www.healthscout.com/ency/article/001210.htm
Extractions: Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID)
Sanfilippo Syndrome sanfilippo syndrome. Alternative Names Mucopolysaccharidosis Treatment There is no specific treatment for sanfilippo syndrome. Specific http://www.healthscout.com/ency/article/001210trt.htm
Extractions: Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Expectations (prognosis): Severe retardation is the most important of the clinical problems. IQs may be below 50. Severe cases lead to death before 20 years of age. In a minority of cases, Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to
Bbc.co.uk - Health - Conditions A-Z Sanfilippo Syndrome sanfilippo syndrome By Dr Trisha Macnair. The sanfilippo syndrome Medical Research Foundation www.juliashope.org Contact a Family www.cafamily.org.uk. http://www.bbc.co.uk/health/conditions/sanfilippo_syndrome.shtml
Extractions: Sanfilippo Syndrome is one of the mucopolysaccharide disorders (MPS) and is also known as MPS type 3. Mucopolysacchrides are long sugar molecules that are constantly used and broken down in the body as cells are built and replaced. In Sanfilippo Syndrome the enzyme which breaks down mucopolysacchrides (called heparan sulfatase) is not produced properly and the mucopolysacchrides remain stored in the cells causing progressive damage. Four different enzyme deficiencies have been found : type A, B, C, or D. These are very similar although type B may be milder and occasionally the affected individual remains fairly well into adult life. Age of onset is 2-6 with two thirds developing symptoms before their 4th birthday. The disorder usually progresses slowly through 3 stages, but can be faster in some cases than others. Initially the baby appears quite normal but starts to fall behind in reaching developmental milestones such walking and talking. Behavioural problems are typical, with hyperactivity, aggressive behaviour, reduced sleep and restlessness. Early progress in language and understanding is lost as the child 'slips backwards' into severe learning disability. During the second stage, from 5-10 years, the difficult behaviour and hyperactivity gets worse. In the third stage, usually after 10 years of age, the child slows down, loses motor (movement) skills, balance and co-ordination and develops ataxia, tremor. There may be physical features such a short stature, an enlarged head and coarse facial features, but many children look normal. Life expectancy is 14-20 years.
Extractions: What is sickle cell anaemia? Sickle cell anaemia is an inheritable genetic condition in which there is an abnormality of haemoglobin in red blood cells. Haemoglobin is the oxygen-carrying protein in red cells. People with Sickle Cell Anaemia have a type of haemoglobin known as Sickle haemoglobin (HbS) that is different from the normal haemoglobin (HbA). Normal red blood cells can bend and flex easily, and so travel around the blood vessels easily. When sickle haemoglobin gives up its oxygen to the tissues, it sticks together to form long rods inside the red blood cells making these cells rigid and sickle-shaped. They are then less able to squeeze through small blood vessels so well. Small blood vessels easily become blocked, preventing oxygen from getting through and causing severe pain and damage to organs. Symptoms Blockage of a vessel causes an attack known as a crisis. This is more likely to happen when the person is stressed by other illness, exhaustion, cold, dehydration and other problems. Organs such as the liver, kidney, lungs, heart and spleen become damaged, causing severe pain especially in the bones. The red blood cells also break up easily leading to anaemia.
