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Mucopolysaccharidosis type III (S anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

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Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki‐Szymańska, Anna·2013·Acta Paediatrica
DOI 10.1111/apa.12169PMC PMC3654162
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Abstract

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

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  • ATP6V1A was identified as a key nodal regulator in late-onset Alzheimer's disease in a multi-omic analysis.

    “Interestingly, ATP6V1A was identified as a key nodal regulator in late-onset Alzheimer’s disease in a multi-omic analysis.159”

    From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [159]

    The Biochemical Testing for MPS III > Enzyme activity assays section discusses Sanfilippo syndrome diagnosis and phenotype prediction, not ATP6V1A or Alzheimer's disease. Searches for ATP6V1A, late-onset Alzheimer's disease, and a multi-omic nodal regulator found no passage in our copy addressing the claim; page numbers were unavailable. (LLM, conf=0.78)

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Cited by

Sorted by citations

Authors
Wijburg, F. A., Węgrzyn, G., Burton, B. K., & Tylki‐Szymańska, A.
Affiliations
  • Amsterdam UMC Location University of Amsterdam (NL)
  • University of Gdańsk (PL)
  • Lurie Children's Hospital (US)
  • Children's Memorial Health Institute (PL)
Corresponding author
Wijburg, Frits A
ORCID
Venue
Acta Paediatrica
Publisher
Wiley
Published
2013-02-06
Volume
102
Issue
5
Pages
462-470
ISSN
  • 0365-1436 (ISSN-L)
  • 0803-5253
  • 1651-2227
DOI
10.1111/apa.12169
PMC
PMC3654162
OpenAlex
W2107083291
Cited by
129
References
0
Citations by year
2026: 8 · 2025: 7 · 2024: 10 · 2023: 7 · 2022: 15 · 2021: 15 · 2020: 12 · 2019: 4 · 2018: 14 · 2017: 8 · 2016: 12 · 2015: 5 · 2014: 8 · 2013: 3
FWCI
1.03
Type
journal article
Language
en
Open access
Licence
Locations
  • Acta Paediatrica (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Funders
  • BioMarin Pharmaceutical
  • Actelion Pharmaceuticals
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
mucopolysaccharidosis type III, Sanfilippo syndrome, misdiagnosis, developmental delay, attention deficit hyperactivity disorder, autism spectrum disorder, hyperactivity, cognitive decline, screening, genetic screening
MeSH terms
Attention Deficit Disorder with Hyperactivity, Child, Developmental Disabilities, Child Development Disorders, Pervasive, Diagnostic Errors, Humans, Mucopolysaccharidosis III, Biomarkers

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