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

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

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.

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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

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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

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

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

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

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

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

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.

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