Sanfilippo syndrome

Sanfilippo Syndrome (MPS III)
Other names	Mucopolysaccharidosis III; MPS III
12-year-old girl with Sanfilippo Syndrome Type A
Pronunciation	/ˌsanfɪˈliːpəʊz/
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[1]

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.^[2]

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.^[3]