ABC11 TV -- Hope At Duke For Children With Sanfilippo Syndrome net. Monday, November 25, 2002. Hope at Duke for Children with sanfilippo syndromeBy Angela Hampton. For more information on sanfilippo syndrome, go to http://www.helpachild.net/bennett/publicity/tv/abc11tv/11-25-02.htm
Extractions: We have an update on a story about three children with Sanfilippo Syndrome - a rare genetic disease that is usually fatal. But one of the children was eligible for an experimental and potentially life-saving treatment at Duke. He received that treatment Friday, and now his parents and doctors are waiting for a miracle. Three-year-old, Tommy Bennett has spent more time in the hospital than most people will in a lifetime. But this trip to Duke could save his life. On Friday, Tommy received a stem cell transplant from umbilical-cord blood. "It's coming, slowly, but surely." Tommy's parents Alicia and John Bennett believe the 20-minute transfusion was the beginning of the rest of their son's life. The Bennetts' came to Duke from California to help all three of their children. Tommy, along with 4-year-old Hunter, and 6-year-old Ciara have the rare genetic disease Sanfilippo Syndrome. Their bodies are missing an enzyme that leads to brain and organ damage and kills most kids in their teens. But only Tommy's illness is potentially treatable, because it isn't as advanced.
ABC11 TV -- Sanfilippo Syndrome sanfilippo syndrome By Angela Hampton A California family has come to Duke foran experimental treatment they hope will save one of their children's lives. http://www.helpachild.net/bennett/publicity/tv/abc11tv/11-4-02.htm
Extractions: A California family has come to Duke for an experimental treatment they hope will save one of their children's lives. All three of their kids have a rare genetic disease that will probably kill them by age 15. But a new procedure may give one boy a chance at life. The three children were born with Sanfilippo Syndrome. It's a rare disease that develops in the first few years of a child's life, and is often mis-diagnosed. There is no cure. The children's parents have brought them to Duke because it's the only medical center in the world doing stem cell transplants using umbilical cord blood to try to reverse some of the symptoms of Sanfilippo. John Bennett has brought his sons from northern California to Durham, to try to save their young lives. "Feed the fishies. Fishies like bread too." Three-year-old Tommy, and 4-year-old Hunter, are very sick with a rare genetic disease. Sanfilippo Syndrome robs their little bodies of an enzyme that breaks down sugar molecules. It causes severe brain and organ damage, and premature death. "Most Sanfilippo kids, if they do live to 15, are bedridden vegetables."
CCHS Clinical Digital Library Disorders. sanfilippo syndrome Clinical Resources. Pediatric Database (PEDBASE)List of documents sanfilippo syndrome A Access document. Radiology http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/mucopolys
Extractions: Clinical Resources by Topic: Metabolic Disorders Sanfilippo Syndrome Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):
Extractions: Patient/Family Resources by Topic: Metabolic Disorders Sanfilippo Syndrome Patient/Family Resources Spanish Miscellaneous See also: Diseases: List of documents MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Sanfilippo Syndrome Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Genetic Disorders
Untitled MPS type IIIA (IDUA); sanfilippo syndrome type A. MPS type IIIB (NAGLU); Sanfilipposyndrome type B MPS type IIIC (GNAT); sanfilippo syndrome type C. http://www.peds.umn.edu/gene/mutation/
Extractions: Clicking on the name of the condition links to the corresponding description at the Online Mendelian Inheritance in Man ( OMIM ) site. Mutations for each gene for MPS are being tabulated to describe the global experience. In each case, clicking on the HUGO abbreviation (denoted in parentheses) links to a Mutation Database for that gene. In many cases, such mutation can be "correlated" with various phenotypes (i.e., "genotype-phenotype correlation") with the hobe that the cummulative experience will provide predictive information (i.e., "prognosis") as well as assist in the interpretation of experimental clinical trials. Those who use this information are encouraged to check its validity and to notify the Curator of any errors or new information. MPS type I (IDUA); Hurler, Scheie, and Hurler-Scheie, syndromes MPS type II (IDS); Hunter syndrome MPS type IIIA (IDUA); Sanfilippo syndrome type A MPS type IIIB (NAGLU); Sanfilippo syndrome type B MPS type IIIC (GNAT); Sanfilippo syndrome type C MPS type IIID (G6S);
MPS LINKS sanfilippo syndrome Type A MUCOPOLYSACCHARIDOSIS TYPE IIIA. SanfilippoSyndrome Type B MUCOPOLYSACCHARIDOSIS TYPE IIIB. Sanfilippo http://www.peds.umn.edu/gene/other/mpslinks/
Health Library - Sanfilippo Syndrome sanfilippo syndrome. Synonyms urine. There are four types of SanfilippoSyndrome; types A and B are the most common forms. Resources. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Sanfilippo Syndrome sanfilippo syndrome. Definition This substance is called heparan sulfate, andin sanfilippo syndrome, large amounts of it are excreted in the urine. http://www.pennhealth.com/ency/article/001210.htm
Extractions: Disease Injury Nutrition Poison ... Prevention 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. 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. 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 mental retardation , stiff joints, gait disturbances, speech disturbances , and behavioral problems.
Sanfilippo Syndrome sanfilippo syndrome. Alternative Names Mucopolysaccharidosis TreatmentThere is no specific treatment for sanfilippo syndrome. Specific http://www.pennhealth.com/ency/article/001210trt.htm
Extractions: 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 blindness , or may have seizures
Left home page, home page. Elisa Linton, Elisa Linton. sanfilippo syndrome, SanfilippoSyndrome. Research Update, Research Update. Past Events, Past Events. http://www.alifeforelisa.org/sidebar.html
Health Ency.: Disease: Sanfilippo Syndrome sanfilippo syndrome. This substance is called heparan sulfate, and in Sanfilipposyndrome, large amounts of it are excreted in the urine. Causes and Risks. http://www.accessatlanta.com/shared/health/adam/ency/article/001210.html
Extractions: Important notice Ency. home Disease S Sanfilippo syndrome Overview Symptoms Treatment Prevention 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. Causes and Risks 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
Health Ency.: Disease: Sanfilippo Syndrome sanfilippo syndrome. Prevention. Genetic counseling is recommended forprospective parents with a family history of sanfilippo syndrome. http://www.accessatlanta.com/shared/health/adam/ency/article/001210prv.html
Extractions: Important notice Ency. home Disease S Sanfilippo syndrome Overview Symptoms Treatment Prevention 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 Prevention Genetic counseling is recommended for prospective parents with a family history of Sanfilippo syndrome. Ency. home Disease S Please read this Important notice
Qango : Health: Diseases And Conditions: S: Sanfilippo Syndrome category Options Help. Home Health Diseases and Conditions S sanfilippo syndrome, Suggest a Site. Health, etc. If you would http://www.qango.com/dir/Health/Diseases_and_Conditions/S/Sanfilippo_Syndrome/
Florida State University College Of Medicine Digital Library sanfilippo syndrome Patient/Family Resources. sanfilippo syndrome Accessdocument. Miscellaneous sanfilippo syndrome Patient/Family Resources http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/muco
Extractions: Patient/Family Resources by Topic: Metabolic Disorders Sanfilippo Syndrome Patient/Family Resources Spanish Miscellaneous See also: Diseases: List of documents MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Sanfilippo Syndrome Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Genetic Disorders
Florida State University College Of Medicine Digital Library Sandhoff Disease Clinical Resources; Sandhoff Disease Patient/Family Resources;sanfilippo syndrome Clinical Resources (MPS III A, B, C, D); http://fsumed-dl.slis.ua.edu/alpha-index/aa-alpha-individ/s-page.htm
Extractions: Digital Library Alphabetic Browse All Digital Library Resource Topics Beginning with "S" See also: Clinical Resources A-Z Patient/Family Resources A-Z Preventive Medicine Resources A-Z Public Health Resources A-Z ... Sanfilippo Syndrome Clinical Resources (MPS III A, B, C, D) Sanfilippo Syndrome Patient/Family Resources (MPS III A, B, C, D) Sarcoidosis Clinical Resources Sarcoidosis Patient/Family Resources Scabies Clinical Resources Scabies Patient/Family Resources ... Scheie Syndrome Clinical Resources (MPS I) Scheie Syndrome Patient/Family Resources (MPS I) Schistosomiasis Clinical Resources Schistosomiasis Patient/Family Resources Schizoid Personality Disorder Clinical Resources Schizoid Personality Disorder Patient/Family Resources ... Sly Syndrome Clinical Resources (MPS VII) Sly Syndrome Patient/Family Resources (MPS VII) Small Cell Carcinoma Clinical Resources Small Cell Carcinoma Patient/Family Resources Smallpox Clinical Resources Smallpox Patient/Family Resources ... Florida State University College of Medicine
MPS III sanfilippo.gif (174947 bytes)sanfilippo syndrome is also known as MPSIII. It takes its name from Dr. Sylvester Sanfilippo who was http://www.mpssociety.org.au/mps_iii.htm
Extractions: Home MPS Society MPS Diseases What's New ... Site Map MPS III - Sanfilippo Characteristics of MPS III Medical Problems of those affected by MPS III Current Research into MPS III Sanfilippo Syndrome is also known 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. To date four different enzyme deficiencies have been found to cause Sanfilippo Syndrome and so the condition is described as type A, B, C, or D. These enzymes are: Sanfilippo A Heparan-N-sulphatase Sanfilippo B a -N-Acetylgucosaminidase Sanfilippo C AcetylCoA:N-acetyltransferase Sanfilippo D N-Acetylglucosamine 6-sulphatase There is usually very little difference between the four types of the disorder but there have been some very mild cases of the B form where the affected individuals have remained relatively healthy into adult life. The latest understanding is that some people seem to produce some enzyme activity which helps to slow down the progression of the disorder whilst those with more severe symptoms appear to have no enzyme activity (or function) at all. It is important to understand that all those with Sanfilippo syndrome have the same condition, even if some have a milder form. The combined incidence of Sanfilippo syndrome is 1 in 66,000, however each of the particular types is rarer again. The Australian prevalence of MPS IIIA is 1 in 114,000, MPS IIIB is 1 in 211,000, MPS IIIC is 1 in 1,407,000 and MPS IIID is 1 in 1,056,000.
Table Of Diseases Mucopolysaccharidosis type IIIA. sanfilippo syndrome A. HeparanN-sulphatase. Mucopolysaccharidosistype IIIB. sanfilippo syndrome B. aN-Acetylglucosaminidase. 17q21. http://www.mpssociety.org.au/table_of_diseases.htm
Extractions: Home MPS Society MPS Diseases What's New ... Site Map Table of MPS and Related Diseases The following is a summary of some of the Lysosomal Storage Diseases (LSD) and availability of therapies. This table is adapted from the LDA newsletter dated November 2000 and the full version can be found on the website of Lysosomal Diseases Australia. Clicking on any of the hyperlinks will either take you to a page containing further information on the disease on this site, or if such information is not available on this site, will take you to a different website specifically addressing that particularly disease or condition. Those websites are not related to this site and no responsibility is taken for the content of those sites or anything related to use of those sites. MPS DISEASES (in alphabetical order) CLINICAL PHENOTYPE ENZYME DEFICIENCY CHROMOSOME LOCATION BONE MARROW TRANSPLANTATION ANIMAL MODEL HUMAN ERT AUSTRALIAN PREVALENCE CARRIER FREQUENCY Mucolipidosis type I Sialidosis types I and II Neuaminidase 1 in 1027 Mucolipidosis types II and III I-Cell Disease Pseudo-Hurler Polydystroph y Phosphotransferase Benefit reported for one ML II patient cat 1 in 325,000
Mucopolysaccharidosis Type of MPS Mucopolysaccharidosis; Mucolipidosis; Hunter Syndrome; HurlerSyndrome; MaroteauxLamy Syndrome; sanfilippo syndrome; Scheie Syndrome. http://www.familyvillage.wisc.edu/lib_muco.htm
Nutritional And Metabolic Diseases About the sanfilippo syndrome (MPS III) MPS Society (US); About Mucopolysaccharidosis(MPS) I / Hurler-Scheie Syndrome, Mucopolysaccharidosis II / Hunter http://www.mic.ki.se/Diseases/c18.html
