BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuMucopolysaccharidosis type IIIMPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal storage disease - mucopolysaccharidosis type IIIMucopolysaccharidosis type III (MPS III) is a rare disease in which the body is missing or does not have enough of certain enzymes needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems.EnzymesEnzymes are complex proteins that cause a specific chemical change in all parts of the body. For example, they can help break down the foods we eat ...Read Article Now Book Mark Article The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs). MPS II is also known as Sanfilippo syndrome.There are several other types of MPSs, including:MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome) MPS IMucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long ch...Read Article Now Book Mark Article MPS II (Hunter syndrome) MPS IIMucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long ...Read Article Now Book Mark Article MPS IV (Morquio syndrome)MPS IVMucopolysaccharidosis type IV (MPS IV) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long ...Read Article Now Book Mark Article Causes MPS III is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of a gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. This is called an autosomal recessive trait.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article MPS III occurs when the enzymes needed to break down the heparan sulfate sugar chain are missing or defective.There are four main types of MPS III. The type a person has depends on which enzyme is affected.Type A is caused by a defect in the SGSH gene and is the most severe form. People with this type do not have a normal form of the enzyme called heparan N-sulfatase. Type B is caused by a defect in the NAGLU gene. People with this type are missing or do not produce enough alpha-N-acetylglucosaminidase. Type C is caused by a defect in the HGSNAT gene. People with this type are missing or do not produce enough acetyl-CoA:alpha-glucosaminide N-acetyltransferase. Type D is caused by a defect in the GNS gene. People with this type are missing or do not produce enough N-acetylglucosamine 6-sulfatase. Symptoms Symptoms often appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by worsening mental status.Other symptoms may include:Behavioral problems, including hyperactivity HyperactivityHyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted.Read Article Now Book Mark Article Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic diarrhea Enlarged liver and spleen LiverEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...Read Article Now Book Mark Article SpleenSplenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.Read Article Now Book Mark Article Sleep difficulties Stiff joints that may not extend fully Vision problems and hearing loss Walking problems Exams and Tests The health care provider will perform a physical exam.Urine tests will be done. People with MPS III have a large amount of a mucopolysaccharide called heparan sulfate in the urine.Other tests may include:Blood enzyme level Echocardiogram Genetic testing Slit lamp eye exam Slit lamp eye examThe slit-lamp examination looks at structures that are at the front of the eye.Read Article Now Book Mark Article Skin fibroblast culture X-rays of the bones Treatment Treatment of MPS III is aimed at managing the symptoms. There is no specific treatment for this disease. New research is under development for gene therapy and enzyme replacement. Support Groups More information and support for people with MPS III and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/3807/mucopolysaccharidosis-type-iii Team Sanfilippo Foundation -- teamsanfilippo.org/ Outlook (Prognosis) MPS III causes significant nervous system symptoms, including severe intellectual disability. Most people with MPS III live into their teenage years. Some live longer, while others with severe forms die at an earlier age. Symptoms are most severe in people with type A. Possible Complications These complications can occur:Blindness Inability to care for self Intellectual disability Nerve damage that slowly gets worse and eventually requires wheelchair use Seizures When to Contact a Medical Professional Call your child's provider if your child does not seem to be growing or developing normally.See your provider if you plan to have children and you have a family history of MPS III. Prevention Genetic counseling is recommended for couples who want to have children and who have a family history of MPS III. Prenatal testing is available.Open ReferencesReferencesPearse Y, Iacovino M. A cure for Sanfilippo syndrome? A summary of current therapeutic approaches and their promise. Med Res Arch. 2020;8(2):10. PMID: 32733997 pubmed.ncbi.nlm.nih.gov/32733997/.Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 244.Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 107.Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.AllVideoImagesTogRelated Information Enzyme(Special Topic)Autosomal recessive(Special Topic)Intellectual disability(Condition)Mucopolysaccharidosis type I(Condition) Review Date: 5/2/2021 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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