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Mucopolysaccharidosis type III


Title




Other Names:
Mucopoly-saccharidosis type 3; Sanfilippo syndrome; MPSIII; Mucopoly-saccharidosis type 3; Sanfilippo syndrome; MPSIII; Mucopolysaccharidosis type 3; Sanfilippo disease See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases; RDCRN; Skin Diseases See More
Subtypes:
Mucopolysaccharidosis type IIIA; Mucopolysaccharidosis type IIIB; Mucopolysaccharidosis type IIID
This disease is grouped under:
Mucopolysaccharidosis

Summary Summary


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Mucopolysaccharidosis type III (MPS III) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides).[1][2] Specifically, people with this condition are unable to break down a GAG called heparan sulfate.[2] Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time.[1] MPS III is inherited in an autosomal recessive manner.[2] There is no specific treatment for this condition.[2] Most people with MPS III live into their teenage years, and some live longer.[1] 

MPS III is divided into four subtypes, known as A, B, C and D.[1][2] Each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. The different types of MPS III have similar signs and symptoms, although type A is the most severe.[1][2]

To view the GARD pages on the subtypes of MPS III, click on the following links:

Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID

Last updated: 7/7/2011

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 90 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Central nervous system degeneration 0007009
Chronic otitis media
Chronic infections of the middle ear
0000389
Coarse hair
Coarse hair texture
0002208
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
Generalized hirsutism
Excessive hairiness over body
0002230
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation
[ more ]
0006887
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
0010864
Malabsorption
Intestinal malabsorption
0002024
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
30%-79% of people have these symptoms
Abnormal clavicle morphology
Abnormal collarbone
0000889
Abnormal form of the vertebral bodies 0003312
Abnormality of the ribs
Rib abnormalities
0000772
Adenoiditis 0031458
Ataxia 0001251
Brain imaging abnormality 0410263
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Coarse facial features
Coarse facial appearance
0000280
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
0002376
Genu valgum
Knock knees
0002857
Heparan sulfate excretion in urine 0002159
Hepatomegaly
Enlarged liver
0002240
Hyperactivity
More active than typical
0000752
Intermittent diarrhea 0002254
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Recurrent sinopulmonary infections
Recurrent sinus and lung infections
0005425
Specific learning disability 0001328
Splenomegaly
Increased spleen size
0001744
Synophrys
Monobrow
Unibrow
[ more ]
0000664
Thick hair
Increased hair density
0100874
Tonsillitis
Inflammation of tonsils
0011110
Vocal cord paresis
Weakness of the vocal cords
0001604
5%-29% of people have these symptoms
Abnormal aortic valve morphology 0001646
Abnormal mitral valve morphology 0001633
Abnormal myocardium morphology 0001637
Abnormal pyramidal sign 0007256
Abnormal temper tantrums 0025160
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
0000164
Abnormality of the middle ear ossicles 0004452
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
0000718
Aspiration pneumonia 0011951
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Avascular necrosis of the capital femoral epiphysis 0005743
Cardiomegaly
Enlarged heart
Increased heart size
[ more ]
0001640
Constipation 0002019
Constrictive median neuropathy 0012185
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Dysarthria
Difficulty articulating speech
0001260
Dysostosis multiplex 0000943
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Fatigable weakness of swallowing muscles 0030195
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hip dysplasia 0001385
Hip pain 0030838
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyperactive deep tendon reflexes 0006801
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
0002659
Inguinal hernia 0000023
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Low levels of vitamin D
Deficient in vitamin D
Vitamin D deficiency
[ more ]
0100512
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
0000158
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss
[ more ]
0000410
Motor delay 0001270
Obstructive sleep apnea 0002870
Pigmentary retinopathy 0000580
Progressive inability to walk 0002505
Protuberant abdomen
Belly sticks out
Extended belly
[ more ]
0001538
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Reduced ejection fraction 0012664
Rod-cone dystrophy 0000510
Scoliosis 0002650
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Thick nasal alae 0009928
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
0012471
Thickened helices 0000391
Umbilical hernia 0001537
Upper airway obstruction 0002781
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Blindness 0000618
Constriction of peripheral visual field
Limited peripheral vision
0001133
Disinhibition 0000734
Hyperorality 0000710
Hypersexuality
Sex addiction
0030214
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ]
0000662
Opacification of the corneal stroma 0007759
Optic atrophy 0000648
Retinal degeneration
Retina degeneration
0000546
Showing of 90 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment


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The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Mucopolysaccharidosis type III. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
    #218-2055 Commercial Drive
    Vancouver, BC V5N OC7
    Canada
    Toll-free: 800-667-1846
    Telephone: 604-924-5130
    Fax: 604-924-5131
    E-mail: info@mpssociety.ca
    Website: http://www.mpssociety.ca
  • Cure Sanfilippo Foundation
    PO Box 6901
    Columbia, SC 29260
    Telephone: 803-413-0595
    E-mail: Contact@CureSanfilippoFoundation.org
    Website: https://curesanfilippofoundation.org/
  • National MPS Society
    P.O. Box 14686
    Durham, NC 27709-4686
    Toll-free: 1-877-MPS-1001 (1-877-677-1001)
    Telephone: +1-919-806-0101
    Fax: +1-919-806-2055
    E-mail: info@mpssociety.org
    Website: https://mpssociety.org/
  • Sanfilippo Children's Foundation
    PO Box 475
    Freshwater NSW 2096
    Australia
    Telephone: 1800 664 878
    Website: https://www.sanfilippo.org.au/
    Contact form: https://www.sanfilippo.org.au/about-us/contact-us
  • Society for Mucopolysaccharide (MPS) Diseases
    MPS House Repton Place White Lion Road
    Amersham Buckinghamshire
    HP7 9LP
    United Kingdom
    Telephone: (+44) 0345 389 9901
    E-mail: mps@mpssociety.org.uk
    Website: https://www.mpssociety.org.uk/
  • Team Sanfilippo Foundation
    PO Box 1152
    Ronkonkoma, NY 11779
    Telephone: 518-879-6571
    E-mail: http://teamsanfilippo.org/contact-us
    Website: http://www.teamsanfilippo.org/

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mucopolysaccharidosis type III. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 23, 2016; https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet.
  2. Haldeman-Englert C. Sanfilippo syndrome. MedlinePlus. May 7, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm. Accessed 7/2/2015.
Do you know of a review article? We want to hear from you.
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