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.
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.