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Sanfilippo Syndrome: A Rare and Devastating Lysosomal Storage Disorder
What is Sanfilippo Syndrome?
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disorder that primarily affects the brain and spinal cord. It is caused by a deficiency of one of four enzymes that are responsible for breaking down glycosaminoglycans (GAGs), a type of sugar molecule that is found in the body's tissues and fluids.
MPS III: A Life-Threatening Disorder
MPS III is a life-threatening disorder that interferes with metabolism. While it does not have a cure, some symptoms can be managed with supportive care. The severity of the disorder varies widely, but most individuals with MPS III experience developmental delays, intellectual disability, and progressive motor problems.
Later Features of Sanfilippo Syndrome
As children with MPS III get older, they may develop additional symptoms, including:
- Coarsening of facial features
- Thickening of the tongue and lips
- Joint stiffness
- Enlarged liver and spleen
- Heart problems
The life expectancy of individuals with MPS III varies, but most do not live beyond their 20s.
MPS III: A Rare and Inherited Disorder
Sanfilippo syndrome is a rare disorder, affecting approximately 1 in 70,000 newborns. It is inherited in an autosomal recessive manner, meaning that both parents must carry the defective gene in order for a child to be affected.
MPS III: A Neurodegenerative Disorder
Sanfilippo syndrome is a neurodegenerative disorder, meaning that it causes progressive damage to the brain and nervous system. The GAGs that accumulate in the body's tissues and fluids are toxic to neurons, the cells that make up the brain and nervous system. As the GAGs accumulate, they damage the neurons and interfere with their ability to function properly.
There is currently no cure for Sanfilippo syndrome, but research is ongoing to develop new treatments. Supportive care can help to manage the symptoms of the disorder and improve the quality of life for individuals with MPS III.
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