Sanfilippo syndrome
| Sanfilippo Syndrome (MPS III) | |
|---|---|
| Other names | Mucopolysaccharidosis III; MPS III |
| 12-year-old girl with Sanfilippo Syndrome Type A | |
| Pronunciation |
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| Specialty | Medical genetics |
| Symptoms | Progressive intellectual disability; hyperactivity; dementia; loss of mobility |
| Usual onset | Birth; symptoms usually become apparent between ages 1-4 |
| Duration | Lifelong |
| Types | Sanfilippo Syndrome Types A, B, C, and D |
| Causes | Inherited enzyme deficiency |
| Diagnostic method | MPS urine screen (initial test), confirmed by blood test |
| Treatment | There is no cure; only symptom management |
| Prognosis | Lifespan is reduced; most patients survive until the early teenage years, but some may reach their 30s |
| Frequency | 1 in 70,000 |
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.
Children with Sanfilippo syndrome do not usually show any problems at birth. As they grow, they may begin having trouble learning new things and might lose previously learned skills. As the disease progresses, they may develop seizures and movement disorders. Most children with Sanfilippo syndrome live into adolescence or early adulthood.