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Understanding Sanfilippo Syndrome

Alzheimer’s and Dementia are neurodegenerative diseases common among the elderly. But imagine young ones suffering from these ailments.


What Is Sanfilippo Syndrome?

Sanfilippo syndrome is a genetic error of metabolism that mainly affects a child’s central nervous system. When the body is deficient in a special enzyme needed to break down sugar molecules, it can cause a buildup of sugars in the brain. This can lead to serious symptoms, including developmental delays, behavioral challenges, loss of skills like eating, speech, and movement, and eventually severe neurological decline. The physical symptoms also get worse over time, and the symptoms can lead to premature death.

Sanfilippo Syndrome primarily affects children.


While symptoms can be present at birth, they usually become noticeable between the ages of 2 and 6. The disease is progressive, which means it gets worse over time. In the early years, children may seem healthy and may only seem a little behind their peers. But as Sanfilippo advances, it causes rapid regression.

Sanfilippo deprives children of the skills they have already gained, such as moving independently, thinking clearly, speaking, and even recognizing their loved ones. The disease robs them of their futures, but with continued study, there is hope. Research is happening. Nevertheless, it needs funding to move faster.

Every breakthrough brings us closer to saving the lives of many children suffering from this condition.

Read More About the Disease

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Team Sanfilippo is a nonprofit foundation dedicated to funding research and supporting families affected by Sanfilippo Syndrome.

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