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Epidemiology

Cellular Impact of Sanfilippo Syndrome

Sanfilippo is caused by a genetic change that prevents the body from making enough of a working enzyme that breaks down heparan sulfate. Since the child’s body is unable to break down heparan sulfate properly, it builds up in the cellular lysosomes and leads to toxic effects in the cells of the brain and body.

Impact of Sanfilippo on cellular lysosome - copyright 2021 Cure Sanfilippo Foundation

Incidence & Distribution of Sanfilippo Syndrome

MPS III is the most common type of Mucopolysaccharidosis; the estimated incidence of all four subtypes combined is 1 in 70,000 newborns.

By Type of Sanfilippo

Type Incidence in Thousands# Prevalence in Thousands* Carrier Frequency
Type A 128 114 169
Type B 235 211 230
Type C 1407 1407 593
Type D 1056 1056 514
Source: Meikle PJ, Hopwood JJ, Clague AE, Carey WF (January 1999). “Prevalence of lysosomal storage disorders”. JAMA. 281 (3): 249–54. doi:10.1001/jama.281.3.249. PMID 9918480. https://pubmed.ncbi.nlm.nih.gov/9918480/

Factors in Sanfilippo

Sanfilippo Syndrome appears to affect every gender, nationality, socio-economic bracket, and geographic region.

Co-occurring Conditions

Children with Sanfilippo Syndrome are also often diagnosed with Autism.

Additional Information