National MPS Society - MPS III: Sanfilippo Syndrome Information, including the causes, different forms, the inheritance and how the disorder progresses.Category Health Conditions and Diseases sanfilippo syndromesanfilippo syndrome is a mucopolysaccharide disorder and is also known respectivelyas 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.
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.
The CDGS Family Network,Inc. sanfilippo syndrome is a mucopolysaccharide disorder and is also known respectively as MPS III. http://www.cdgs.com/
Utah News From KSL-TV, Salt Lake City, Utah Eyewitness News on Demand February 25, 2003 Links To More Info April 6, 2000 Tonight on ER, doctors debated the fate of a 14year-old girl with a rare fatal disorder called sanfilippo syndrome. http://www.ksl.com/dump/news/cc/special/science/sanfilip.htm
Extractions: Sanfilippo Syndrome Links To More Info: April 6, 2000 Tonight on ER, doctors debated the fate of a 14-year-old girl with a rare fatal disorder called Sanfilippo Syndrome. The program hit especially close to home for five Utah families who are among a select group across the country - dealing everyday with the emotions of what are called the MPS diseases. Science Specialist Ed Yeates was with them including one of the oldest survivors of the disorder. Ali Smith, Brigham Raneer, Nathon Thomas, and Shauna Taylor. These kids share a common bond, and unfortunately, a common fate. Because they're missing one of the enzymes which helps the body break down and get rid of certain compounds - growth is stunted. They face mental and physical handicaps - and at an early age - vegetation and death! Among the family of MPS diseases, there's Hurler and Hunter Syndromes, and Sanfilippo. ED YEATES, SCIENCE SPECIALIST: "AT AGE 22, SHAUNA IS ONE OF THE OLDEST SURVIVORS OF SANFILIPPO. THE AVERAGE LIFESPAN IS AGE 15."
NORD - Sanfilippo Syndrome Offers a list of synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=29
National MPS Society - Ask The Parents Back to Top. MPS III sanfilippo syndrome Family Contacts. Name, Child's Name,Birthdate, Syndrome, Comments. Brian and Holly Bays, Brianna, 5/24/95, SanfilippoA, http://www.mpssociety.org/sup-parents.html
Extractions: Home MPS Support Ask the Parents Ask The Parents Many National MPS Society member families have consented to offer themselves available to others through email. You may contact them to learn more about the organization and how to cope with day-day issues presented by having a child with an MPS Disorder. We offer these names as an additional resource for affected families and extend our thanks to those listed below for making their email addresses available. Please contact us for additional information on this service. Locate a contact family from the disorder selection lists below: MPS I: Hurler; Hurler-Scheie MPS VI: Maroteaux-Lamy Syndrome MPS II: Hunter Sydrome MPS VII: Sly Syndrome ... ML III MPS I: Hurler; Hurler-Scheie Syndrome Family Contacts Name Child's Name Birthdate Syndrome Comments Charlie Bannister Joshua Wayne Smith Hurler Joshua Passed Away March 6, 1988
Welcome A nonprofit organization dedicated to raising public awareness and funds to support medical research into a cure for sanfilippo syndrome and other neuro-genetic disorders afflicting children. http://www.curekirby.org
Extractions: LATE BREAKING NEWS........To date, this not-for-profit Foundation has granted over $1,890,000 Eleven-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@earthlink.net
Special Child: Disorder Zone Archives Mitochondrial Myopathy Muscular Dystrophy Noonan Syndrome PraderWilli SyndromeRett Syndrome Rubinstein-Taybi Syndrome sanfilippo syndrome Septo-Optic http://www.specialchild.com/disorder.html
Extractions: Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges
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. This substance is called heparan sulfate, and in Sanfilipposyndrome, large amounts of it are excreted in the urine. http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm
Extractions: 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); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency Definition Return to top Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are 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. Sanfilippo syndrome has a relatively late onset rather than during the first year of life. It shares, in common with most of the mucopolysaccharide storage diseases, coarse facial features, decreased mental development that progresses to severe
Extractions: Syndrome mucopolysaccharidosis (MPS) III (A, B, C, D) Synonyms Sanfilippo disease (A, B, C, D) Sanfilippo syndrome (A, B, C, D) heparitinuria HS-mucopolysaccharidosis mucopolysaccharide storage disease III polydystrophic oligophrenia Summary Major Features Head and neck: Dull and slightly coarse facies, sclerotic mastoid bones, and thick posterior calvaria. Nose: Slightly sunken bridge. Mouth and oral structures: Protruding tongue in advanced stages. Abdomen: Visceromegaly. Hand and foot: Claw hand. Extremities: Restricted joint mobility of elbows and knees. Spine: Biconvexity of vertebral bodies. Muscles: Atrophy. Bones and joints: Mild dysostosis multiplex. Skin appendages: Abundant, coarse, and triangular in cross section hair. Nervous system: Deposits of heparan sulfate, ceramide polyhexoside, and GM1 ganglioside in the brain. Biochemical and metabolic features: Faulty degradation and urinary excretion of heparan sulfate with abnormal storage of glycosoaminoglycan in various tissues. Deficiencies of heparan sulfatase, N-acetyl-alpha-D-glusaminidase, aceyl-CoA:alpha-glucosamide N-acetyltransferase, and N-acetylglucosamine-6-sulfate sulfatase are the cause. Growth and development: Mental, motor, and speech deterioration and minimal growth retardation.
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
Research For sanfilippo syndrome, gene therapy will be administration of the normalalphaN-acetyl-glucosaminidase (NAGLU) gene, hoping this will result in http://www.curekirby.org/research02.htm
Extractions: 2. University of Minnesota, Dr. Chester Whitley For Sanfilippo Syndrome, gene therapy will be administration of the normal alpha-N-acetyl-glucosaminidase (NAGLU) gene, hoping this will result in production of the missing enzyme and normal metabolism of mucopolysaccharide or "MPS." The principle is illustrated by our observation that transplantation of normal bone marrow into a child with Sanfilippo Syndrome type B resulted in a dramatic reduction in urine MPS levels (Zhao et al. 1998). Toward accomplishing such gene therapy for patients, the major thrust of our work has been to investigate potential gene delivery vehicles known as "vectors." The major challenge has been to devise a safe method of introducing the gene for normal enzyme production into all of the relevant tissues, particularly the brain. Thus, alternative vectors and routes of administration that circumvent these limitations have been explored by our laboratory. A vector derived from the HIV virus is particularly promising because of its natural ability for permanent integration into the host cell. In studies of related MPS disorders, we have found that HIV-based lentiviral vectors can transduce significant numbers of cells, with significant increase in circulating enzyme activity (Pan et al., in press). However, social concern about the use of HIV is a major impediment to development of clinical therapy. A list of all references available upon request from the Foundation.
Julia's Hope--Research Julia's Disease sanfilippo syndrome Type A sanfilippo syndrome isa lysosomal storage disorder caused by a genetic abnormality. http://www.juliashope.org/research.htm
Extractions: Sanfilippo Syndrome is a lysosomal storage disorder caused by a genetic abnormality. Children with Sanfilippo Syndrome lack the ability to produce an essential enzyme that helps the body break down a substance called heparan sulfate. As this substance slowly accumulates in cells, especially brain cells, normal childhood development gives way to hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death at 10-15 years of age. There are four variants of Sanfilippo Syndrome, classified as types A, B, C, and D. Although clinically very similar, the four types constitute four different enzyme deficiencies. Julia has type A, considered the most common and aggressive form of the disease. Successful research into any of the four types of Sanfilippo syndrome will apply to many of 5,000 other genetic disorders. Click here for more information about Sanfilippo Syndrome.
Ben's Dream - Sanfilippo Syndrome sanfilippo syndrome sanfilippo syndrome is a rare and catastrophic genetic disorderthat takes its name from Dr. Sylvester Sanfilippo, one of the doctors who http://www.bensdream.org/syndrome.html
Extractions: Sanfilippo Syndrome is a rare and catastrophic genetic disorder that takes its name from Dr. Sylvester Sanfilippo, one of the doctors who first described the condition in 1963. Sanfilippo Syndrome is a mucopolysaccharide disorder and is also known respectively as MPS III. It falls within a broader group of genetic disorders known as Lysosomal Storage Diseases. What these diseases share is an enzymatic defect which causes an accumulation of material within the cells of the body. The consequences vary greatly among the subgroups, ranging from a mild impact with a normal life expectancy to a severe and terminal outcome such as Sanfilippo Syndrome. A Sanfilippo child appears normal at birth and seems to develop normally for the first year or two, but as more and more cells become damaged symptoms begin to appear. Eventually, the build-up of muccopolysaccharides will cause hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death. Life expectancy for a child with Sanfilippo Syndrome is between 10 to 15 years.
Ben's Dream - MCGA Grant Summary Among the various forms, MPS III (sanfilippo syndrome) is caused by deficiency inone of four degradative enzymes, leading to an accumulation of GAGs, such as http://www.bensdream.org/mcggrant.html
Extractions: Mucopolysaccharidoses (MPS) are a group of inheritable genetic disorders. Owing to the defective degradation of naturally occurring substances, collectively called glycosaminoglycans (GAGs), these materials will accumulate in tissues causing disturbances in the normal physical and mental development of the body. The disease proceeds with severe neurological symptoms initiated in early childhood. Among the various forms, MPS III (Sanfilippo Syndrome) is caused by deficiency in one of four degradative enzymes, leading to an accumulation of GAGs, such as heparan sulfate, to give rise to four different variants of the disease (A, B, C, and D). The accumulation of heparan sulfate is frequently accompanied by the accretion of gangliosides. These substances are important constituents of the nervous system and are known to play a crucial rose in normal brain development and function. The accumulation of abnormal amounts of these substances is known to contribute to the disease process. Recent studies from our laboratory have shown that the accumulation of ganglioside in Sanfilippo Syndrome is very likely the result of an impairment of enzymes involved in ganglioside metabolism as a result of the accumulation of heparan sulfate. In recent years, enzyme replacement, bone marrow transplantation, and gene therapy have been proposed as therapeutic strategies for MPS and related lysosomal storage disorders. However, there are difficulties associated with these strategies for correcting the genetic defects in the brain because the brain is a well-protected organ. Most of the strategies mentioned above cannot be easily applied to the brain.
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Extractions: 1Up Health Sanfilippo syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Sanfilippo syndrome Information Sanfilippo syndrome Causes, Incidence, and Risk Factors Alternative names : Mucopolysaccharidosis type III (subtypes A - B - C-D), Type IIIA = heparan sulfate sulfatase deficiency, Type IIIB = N-acetylglucosaminidase deficiency, Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency Definition : Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine. Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life. It shares, in common with most of the mucopolysaccharide storage diseases, coarse facial features, decreased mental development that progresses to severe
