Sanfilippo is a rare genetic condition that causes fatal brain damage. It is referred to as a childhood disease because most patients never reach adulthood.
A rare metabolic disorder
Sanfilippo, or MPSIII, is a metabolic disorder. 1 in 70,000 children is born with the inherited condition which is caused by an enzyme deficiency. The lack of enzyme prevents the body from going through its natural recycling process, causing cellular malfunction. The disease has four subtypes (A, B, C and D). Each subtype corresponds to a specific deficient enzyme.
A neurodegenerative disease
Sanfilippo affects mostly the Central Nervous System (CNS). Over time, brain cells fill up with waste that the body is unable to process. As the brain gets progressively damaged, children experience hyperactivity, sleeplessness, loss of speech and cognitive skills, mental retardation, cardiac issues, seizures, loss of mobility, dementia and finally death, usually before adulthood.
Treatments
There is currently no treatment or cure available to families diagnosed with this devastating disease. Yet researchers around the world are working hard to bring therapeutic treatments to life, with several clinical trials already completed or underway. Amongst different therapeutic avenues being explored, gene therapy represents today the most promising avenue for Sanfilippo patients. Research towards a cure for Sanfilippo contributes to the development of treatments for more complex neurological disorders like Alzheimer’s and Parkinson’s diseases.
Source: https://www.sanfilippo.org.au/page/26/what-is-sanfilippo
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