genetic
Sanfilippo syndrome
Sanfilippo , also known as mucopolysaccharidosis type III, is a rare lifelong 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. 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.
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Symptoms — what it feels like
- ·Progressive intellectual disability; hyperactivity; ; loss of mobility
Causes — why it happens
- ·Inherited
How it's found
- ·MPS urine screen (initial test), confirmed by blood test
Treatment
- ·There is no cure; only symptom management
Outlook
- ·Lifespan is reduced; most patients survive until the early teenage years, but some may reach their 30s
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See all of Thyroid & Hormones →Plain-language summary adapted from Wikipedia. Not medical advice.