Mucopolysaccharidosis / Family Village Library What is sanfilippo syndrome? sanfilippo syndrome A information from OMIM. sanfilippo syndrome B information from OMIM http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
► Sanfilippo Syndrome A medical encycopedia article on the topic sanfilippo syndrome. http://www.umm.edu/ency/article/001210.htm
Extractions: Toggle English Spanish Overview Symptoms Treatment 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
A Life For Elisa BACK Email Us. Jul 24, 2005 sanfilippo syndrome Research Related Links Sanfilippo Profiles Life With Elisa Events http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
► Sanfilippo Syndrome A medical encycopedia article on the topic sanfilippo syndrome. http://www.umm.edu/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
Sanfilippo Syndrome sanfilippo syndrome type A (mucopolysaccharidosis IIIA) is an autosomal recessive lysosomal storage disease caused by a deficiency of heparin sulfamidase. http://www.ggc.org/Diagnostics/Molecular/sanfilippo_syndrome.htm
Extractions: Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these enzymes (types A-D) results in the accumulation of heparan sulfate in the patients cells and organs which overtime leads to the clinical phenotype. Sanfilippo syndrome is part of a larger group of disorders termed the mucopolysacharidoses (MPS) of which Sanfilippo is type III. The Greenwood Genetic Centers offers sequencing of the entire coding region of the genes involved in Sanfilippo type A (MPS IIIA, deficiency of heparan sulfamidase, SGSH gene) and Sanfilippo type B (MPS IIIB, deficiency of N-acetyl-alpha-D-glucosaminidase, NAGLU gene). Mutational analysis of either gene detects greater than 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 It is strongly recommended that the enzymatic defect be identified in the proband before molecular testing is performed.*
Extractions: Send it to a friend! Dr Trisha Macnair There are four types of Sanfilippo syndrome, whose symptoms are often first seen between the ages of two and six. Here we look at the causes of this disorder and the most common symptoms. What is it? Symptoms Treatment Sanfilippo syndrome is a mucopolysaccharide (MPS) disorder 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 that breaks down mucopolysacchrides (called heparan sulfatase) isn't produced properly, so the mucopolysacchrides remain stored in the cells causing progressive damage. Four different enzyme deficiencies have been found: types A, B, C and D. These are similar, although type B may be milder and occasionally the affected individual remains fairly well into adult life. Age of onset is two to six, with two-thirds developing symptoms before their fourth birthday. The disorder usually progresses slowly through three stages, but can be faster in some cases than others.
Sanfilippo Syndrome Medical Information sanfilippo syndrome Information from Drugs.com. sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, http://www.drugs.com/enc/sanfilippo_syndrome.html
Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Z 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 are excreted in the urine. 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 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.
Ben's Dream - Sanfilippo Syndrome sanfilippo syndrome is a rare and catastrophic genetic disorder that takes its sanfilippo syndrome is a mucopolysaccharide disorder and is also known 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.
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: June 19, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: MPS, MPS-III, Sanfilippo syndrome, Sanfilippo's syndrome, MPS type IIIA, Sanfilippo A, MPS type IIIB, Sanfilippo B, MPS type IIIC, Sanfilippo C, MPS type IIID, Sanfilippo D AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: , Former Professor, Department of Biology, Colorado State University Coauthor(s): Surendra Varma, MD , Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine American Association for the Advancement of Science American Society of Human Genetics American Society of Mammalogists ... Sigma Xi , and Teratology Society Editor(s): Karl S Roth, MD
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MPS, lysosomal storage disease, glycosaminoglycans, GAGs, MPS type I-H, Hurler syndrome, MPS type I-S, Scheie syndrome, MPS type V, MPS type I-H/S, Hurler-Scheie syndrome, MPS type II, Hunter syndrome, MPS type III-A, Sanfilippo syndrome type A, MPS III-B, Sanfilippo syndrome type B, MPS III-C, Sanfilippo syndrome type C, MPS type III-D, Sanfilippo syndrome type D, MPS type IV-A, Morquio syndrome, MPS type IV-B, MPS type VI, Maroteaux-Lamy syndrome, MPS type VII, Sly syndrome Background: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides (now called glycosaminoglycans [GAGs]). These diseases are autosomal recessive, except for MPS type II, which is X-linked. Pathophysiology: GAGs are long, linear polysaccharide molecules composed of repeating dimers, each of which contains a hexuronic acid (or galactose in the case of keratan sulfate) and an amino sugar. The large proteoglycan molecules made up of protein cores and GAG branches are secreted by cells and constitute a significant fraction of the extracellular matrix of connective tissue. The turnover of these molecules depends on their subsequent internalization by endocytosis, their delivery to the lysosomes, and their digestion by lysosomal enzymes. The enzyme deficiencies lead to the accumulation of mucopolysaccharides in the lysosomes of the cells in the connective tissue and to an increase in their excretion in the urine. The types of MPSs linked to specific enzyme deficiencies are listed below; some have been assigned an Enzyme Commission (EC) number.
Medical Dictionary: Sanfilippo Syndrome - WrongDiagnosis.com Medical dictionary definition of sanfilippo syndrome as a medical term including diseases, symptoms, treatments, and other medical and health issues. http://www.wrongdiagnosis.com/medical/sanfilippo_syndrome.htm
Introduction: Mucopolysaccharidosis III - WrongDiagnosis.com Mucopolysaccharidosis III Individuals with MPS III, or sanfilippo syndrome, experience progressive dementia and mental deterioration in childhood. http://www.wrongdiagnosis.com/m/mucopolysaccharidosis_iii/intro.htm
Extractions: Mucopolysaccharidosis III: Individuals with MPS III, or Sanfilippo syndrome, experience progressive dementia and mental deterioration in childhood. Death usually occurs in the late teens. Researching symptoms of Mucopolysaccharidosis III: Further information about the symptoms of Mucopolysaccharidosis III is available including a list of symptoms of Mucopolysaccharidosis III , or alternatively return to research other symptoms in the symptom center Treatments for Mucopolysaccharidosis III: Various information is available about treatments available for Mucopolysaccharidosis III , or research treatments for other diseases.
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) Family history of Sanfilippo syndrome May have normal growth during first few years, but final height is below average
Untitled MPS type IIIA (IDUA); sanfilippo syndrome type A. MPS type IIIB (NAGLU); sanfilippo syndrome type B NAGLU mutations http://www.peds.umn.edu/Centers/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);
Dr. Koop - Sanfilippo Syndrome There is no specific treatment for sanfilippo syndrome. Specific complications may respond to conventional treatments as they arise. Support Groups http://www.drkoop.com/ency/93/001210trt.html
Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease 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 blindness , or may have seizures
Dr. Koop - Sanfilippo Syndrome sanfilippo syndrome, Jul 29, 2005 Prevention. Genetic counseling is recommended for prospective parents with a family history of sanfilippo syndrome. http://www.drkoop.com/ency/93/001210prv.html
Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease 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) * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks
Sanfilippo Syndrome - Sacbee.com sanfilippo syndrome, 24hour local, state, national and world news, plus politics, sports, business, lifestyle and entertainment coverage, columnists, http://www.sacbee.com/content/news/projects/sanfilippo/
Extractions: Ciara, Hunter and Tommy Bennett are outdoors on a brilliant spring afternoon in Amador County, their naps finished, their little tennis shoes tromping in a vast, green yard. The youngsters suffer from a genetic disorder known as Sanfilippo syndrome, which is caused by the body's inability to produce certain enzymes and strikes about 1 in 70,000 babies. The absence of the enzymes causes sugar molecules called mucopolysaccharides to build up in the body, causing progressive damage to the heart, bones, joints, and respiratory and central nervous systems. Sanfilippo youngsters, who inherit defective genes from both parents, generally die before the age of 13.
Sanfilippo Syndrome Family history of sanfilippo syndrome; May have normal growth during first few years, but final height is below average; Delayed development followed by http://adam.about.com/encyclopedia/001210sym.htm
Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Overview Symptoms Treatment 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) Symptoms: Signs and tests: Hepatomegaly (liver enlargement) Spleen enlargement Clear corneas Echocardiogram may show thickened heart Abnormal bone X-rays, such as thickened skull and oval vertebrae
Extractions: Text Size A A A Front Page ... Genetic Disorders : Sanfilippo Syndrome UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)
Extractions: Home Back to Health Library Print This Page ... Email to a Friend 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) 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
