Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Apr 10;13(1):53.
doi: 10.1186/s13023-018-0796-4.

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamás Zelei  1 , Kata Csetneki  1 , Zoltán Vokó  1 , Csaba Siffel  2
Affiliations

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamás Zelei et al. Orphanet J Rare Dis. .

Abstract

Background: Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D) is a rare autosomal recessive inherited metabolic disorder that causes progressive neurocognitive degeneration. This systematic literature review was undertaken to compile and assess published epidemiological data, including various frequency measures and geographical variation on Sanfilippo syndrome.

Methods: The following databases were systematically searched for terms related to Sanfilippo syndrome epidemiology: Medline, Embase, Cochrane Database of Systematic Reviews, Academic Search Complete, Cumulative Index to Nursing and Allied Health Literature, and the Centre for Reviews and Dissemination. Qualitative synthesis of research findings was performed.

Results: Of 2794 publications found in the initial search, 116 were deemed eligible after title and abstract screening. Following full-text review, 46 papers were included in the qualitative synthesis. Results of this systematic literature review indicate that lifetime risk at birth ranges from 0.17-2.35 per 100,000 live births for all 4 subtypes of MPS III together, and from 0.00-1.62 per 100,000 live births for the most frequent subtype, MPS IIIA.

Conclusion: All 4 subtypes of MPS III are exceptionally rare, but they each have devastating effects on children. Higher-quality epidemiological data are needed to appropriately target resources for disease research and management.

Keywords: Epidemiology; MPS III; Mucopolysaccharidosis type III; Sanfilippo syndrome; Systematic literature review.

PubMed Disclaimer

Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

TZ, KC, and ZV are employees of Syreon Research Institute and performed contracted research for Shire. CS is an employee of Shire.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Flow diagram of included studies. aActual hit number was 744, but EBSCO automatically removed duplicates. CRD Centre for Reviews and Dissemination, MPS mucopolysaccharidosis
Fig. 2
Fig. 2
a Lifetime risk at birth of Sanfilippo syndrome, all subtypes by country/study (number of patients per 100,000 live births). b Lifetime risk at birth of Sanfilippo syndrome type A by country/study. UAE United Arab Emirates
See this image and copyright information in PMC

References

    1. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008;31:240–252. doi: 10.1007/s10545-008-0838-5. - DOI - PubMed
    1. Mucopolysaccharidosis type 3. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=581. Accessed 15 Feb 2017.
    1. Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet. 2015;8:269–281. doi: 10.2147/TACG.S57672. - DOI - PMC - PubMed
    1. MPS III (Sanfilippo syndrome). http://mpssociety.org/mps/mps-iii/. Accessed 15 Feb 2017.
    1. Rath A. Prevalence of rare diseases: bibliographic data. Orphanet Report Series, Rare Diseases collection, June 2017. Number 1: diseases listed in alphabetical order. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_disease.... Accessed 20 Feb 2017.

Publication types