Living with Mucopolysaccharidosis, MPS-III-C
A rare, progressive genetic condition that mainly affects the brain, with worsening thinking and memory, behavior changes, and seizures.
Understanding Mucopolysaccharidosis, MPS-III-C
People cannot break down a large sugar molecule called heparan sulfate, so it builds up in cells and damages the brain. Symptoms can include worsening thinking and memory, aggressive behavior, hyperactivity, seizures, hearing loss, vision loss, and sleeping only a few hours at a time. Signs start in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Loss of speech
- Worsening movement skills (motor deterioration)
- Trouble swallowing (dysphagia)
- Hearing impairment
- Coarse facial features
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in HGSNAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cure Sanfilippo Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the HGSNAT gene, so an enzyme does not work properly. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: acetyl-coa alpha-glucosaminide acetyltransferase deficiency; acetyl-coa: heparan-alpha-d-glucosaminide n-acetyltransferase deficiency; heparan-alpha-glucosaminide acetyltransferase deficiency; heparan-alpha-glucosaminide n-acetyltransferase deficiency; hgsnat deficiency; mps iii c
Patient organizations
- Cure Sanfilippo FoundationMucopolysaccharidosis, MPS-III-C · United States
- National MPS SocietyMucopolysaccharidosis, MPS-III-C · United States
- Team Sanfilippo FoundationMucopolysaccharidosis, MPS-III-C · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis, MPS-III-C.
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