BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuMucopolysaccharidosis type IVMPS IV; Morquio syndrome; Mucopolysaccharidosis type IVA; MPS IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; MPS IVB; Beta galactosidase deficiency; Lysosomal storage disease - mucopolysaccharidosis type 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 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.EnzymeEnzymes 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 IV is also known as Morquio 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 III (Sanfilippo syndrome)MPS 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 do...Read Article Now Book Mark Article Causes MPS IV 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 There are two forms of MPS IV: type A and type B.Type A is caused by a defect in the GALNS gene. People with type A do not have an enzyme called N-acetylgalactosamine-6-sulfatase. Type B is caused by a defect in the GLB1 gene. People with type B do not produce enough of an enzyme called beta-galactosidase.The body needs these enzymes to break down long strands of sugar molecules called keratan sulfate. In both types, abnormally large amounts of glycosaminoglycans build up in the body. This can damage organs. Symptoms Symptoms usually start between ages 1 and 3. They include:Abnormal development of bones, including the spine Bell-shaped chest with ribs flared out at the bottom Cloudy cornea Cloudy corneaA cloudy cornea is a loss of transparency of the cornea.Read Article Now Book Mark Article Coarse facial features Enlarged liver Enlarged 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 Heart murmur Heart murmurA heart murmur is a blowing, whooshing, or rasping sound heard during a heartbeat. The sound is caused by turbulent (rough) blood flow through the h...Read Article Now Book Mark Article Hernia in the groin Hernia in the groinA hernia is a sac formed by the lining of the abdominal cavity (peritoneum). The sac comes through a hole or weak area in the strong layer of the be...Read Article Now Book Mark Article Hypermobile joints Hypermobile jointsHypermobile joints are joints that move beyond the normal range with little effort. Joints most commonly affected are the elbows, wrists, fingers, a...Read Article Now Book Mark Article Knock-knees Large head Loss of nerve function below the neck Short stature with a particularly short trunk Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...Read Article Now Book Mark Article Widely spaced teethWidely spaced teethWidely spaced teeth can be a temporary condition related to normal growth and development of adult teeth. Wide spacing can also occur as a result of...Read Article Now Book Mark Article Exams and Tests The health care provider will perform a physical examination to check for symptoms that include:Abnormal curvature of the spine Cloudy cornea Cloudy corneaA cloudy cornea is a loss of transparency of the cornea.Read Article Now Book Mark Article Heart murmur Hernia in the groin Hernia in the groinA hernia is a sac formed by the lining of the abdominal cavity (peritoneum). The sac comes through a hole or weak area in the strong layer of the be...Read Article Now Book Mark Article Enlarged liver Enlarged 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 Loss of nerve function below the neck Short stature (especially short trunk) Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.Other tests may include:Blood enzyme levels Blood enzyme levelsA blood culture is a laboratory test to check for bacteria or other germs in a blood sample.Read Article Now Book Mark Article Echocardiogram Genetic testing Hearing test Hearing testAn audiometry exam tests your ability to hear sounds. Sounds vary, based on their loudness (intensity) and the speed of sound wave vibrations (tone)...Read Article Now Book Mark Article Slit-lamp eye exam Slit-lampThe 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 long bones, ribs, and spine X-raysX-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray particles through the body. The im...Read Article Now Book Mark Article MRI of the lower skull and upper neck Treatment For type A, the medicine called elosulfase alfa (Vimizim), which replaces the missing enzyme, may be tried. It is given through a vein (IV, intravenously). Talk to your provider for more information.Enzyme replacement therapy is not available for type B.For both types, symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped. Support Groups More information and support for people with MPS IV and their families can be found at:National MPS Society -- mpssociety.org/ National Organization for Rare Disorders -- rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i Outlook (Prognosis) Cognitive function (ability to think clearly) is usually normal in people with MPS IV.Bone problems can lead to major health problems. For example, the small bones at the top of the neck may slip and damage the spinal cord, causing paralysis. Surgery to correct such problems should be done if possible.Heart problems may lead to death. Possible Complications These complications may occur:Breathing problems Heart failure Heart failureHeart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...Read Article Now Book Mark Article Spinal cord damage and possible paralysis Vision problems Walking problems related to abnormal curvature of the spine and other bone problems When to Contact a Medical Professional Call your provider if symptoms of MPS IV occur. Prevention Genetic counseling is recommended for couples who want to have children and who have a family history of MPS IV. Prenatal testing is available.Open ReferencesReferencesPyeritz 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)Short stature(Symptoms)Mucopolysaccharidosis type III(Condition)Heart failure(Condition)Heart failure(In-Depth) 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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.