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Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis

  • Weijing Kong , Shanshan Wu , Jing Zhang , Cheng Lu , Yingxue Ding EMAIL logo and Yan Meng ORCID logo EMAIL logo
Published/Copyright: July 19, 2021
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 10

Abstract

Objectives

Mucopolysaccharidosis III, an autosomal recessive lysosomal storage disorder, is characterized by progressive mental retardation and behavioral problems. Meta-analysis of global mucopolysaccharidosis III epidemiology, which serves as a fundamental reference for public health decision-making, was not available prior to this study. To provide a systematic review and meta-analysis of birth prevalence of mucopolysaccharidosis III in multiple countries.

Methods

MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of mucopolysaccharidosis III from inception until 1st July, 2020. A checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology) was used to assess the quality of all studies involved. Meta-analysis, adopting a random effects logistic model, was performed to estimate pooled birth prevalence of mucopolysaccharidosis III and its subtypes.

Results

Twenty-five studies screened out of 1,826 records were included for data extraction. The pooled global mucopolysaccharidosis III birth prevalence was 0.76 cases (95% CI: 0.57–0.96) per 100,000 live births. The pooled global birth prevalence of mucopolysaccharidosis III subtypes (A, B, and C) was 0.52 cases (95% CI: 0.33–0.72), 0.21 cases (95% CI: 0.12–0.30) and 0.01 cases (95% CI: 0.005–0.02) per 100,000 live births, respectively.

Conclusions

Based on the global population size (7.8 billion) and the life span of patients, there would be 12–19 thousand mucopolysaccharidosis III patients worldwide. To our knowledge, this is the first comprehensive systematic review that presented quantitative data fundamental for evidence-based public health decision-making by evaluating global epidemiology of mucopolysaccharidosis III.

Keywords: birth prevalence; epidemiology; meta-analysis; mucopolysaccharidoses; mucopolysaccharidosis III; Sanfilippo syndrome; systematic review
Corresponding authors: Yingxue Ding, Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China, E-mail: ; and Yan Meng, Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, China, E-mail:

Funding source: Research Foundation of Beijing Friendship Hospital, Capital Medical University

Award Identifier / Grant number: yyqdkt2019-19

  1. Research funding: This work was supported by Research Foundation of Beijing Friendship Hospital, Capital Medical University (No. yyqdkt2019-19).

  2. Authors contributions: KWJ searched and collected related articles, then wrote the manuscript. ZJ collected related articles. KWJ and LC separately reviewed all related articles and operated quality assessment. KWJ and WSS conducted the data analysis. Collection and screening of articles, data analysis and revised writing of the article were supervised by DYX and MY. All authors read and approved the final manuscript.

  3. Competing interests: The authors declare that they have no competing interests.

  4. Availability of data and materials: Data from patients can be made available from the corresponding author after discussion with the Institutional Review Board.

  5. Consent for publication: Not applicable.

  6. Ethics approval: Not applicable.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2020-0742).

Received: 2020-12-27
Revised: 2021-05-29
Accepted: 2021-06-20
Published Online: 2021-07-19
Published in Print: 2021-10-26

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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  2. Review Article
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  5. Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis
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https://doi.org/10.1515/jpem-2020-0742
Keywords for this article
birth prevalence; epidemiology; meta-analysis; mucopolysaccharidoses; mucopolysaccharidosis III; Sanfilippo syndrome; systematic review

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Stretched penile length at birth: a systematic review
  4. Original Articles
  5. Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis
  6. Cardiometabolic risk factors in children and adolescents from southern Brazil: comparison to international reference values
  7. Association of antimullerian hormone with the size of the appendix testis, the androgen and estrogen receptors and their expression in the appendix testis, in congenital cryptorchidism
  8. The utility of serum inhibin B, anti-Müllerian hormone and insulin growth factor-1 in predicting a positive response to GnRH analogs for diagnosing central precocious puberty in girls
  9. Growth response to growth hormone (GH) treatment in children with GH deficiency (GHD) and those with idiopathic short stature (ISS) based on their pretreatment insulin-like growth factor 1 (IGFI) levels and at diagnosis and IGFI increment on treatment
  10. Association of muscle mass and fat mass on low-density-lipoprotein cholesterol and triglyceride plasma concentration in children and adolescents
  11. The effect of sickle cell anemia on the linear growth of Nigerian children
  12. Size-adjustment techniques of lumbar spine dual energy X-ray absorptiometry measurements in assessing bone mineralization in children on maintenance hemodialysis
  13. Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey
  14. Partial remission in children and adolescents with type 1 diabetes: an analysis based on the insulin dose-adjusted hemoglobin A1c
  15. Short Communication
  16. Anti-SARS-CoV-2 antibodies in new-onset type 1 diabetes in children during pandemic in Belgium
  17. Case Reports
  18. An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
  19. Auto-destruction of the thyroid gland and coexisting glutamic acid decarboxylase mediated neurological disease in an adolescent: an unusual presentation of autoimmunity
  20. Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
  21. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
  22. Mild phenotype in two siblings with a missense GHR variant
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