Research Article

A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses

Volume: 64 Number: 3 September 8, 2025
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A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses

Abstract

Aim: Mucopolysaccharidoses (MPS) are a heterogeneous group of diseases characterised by systemic manifestations due to impaired glucosaminoglycans (GAG) degradation within lysosomes. Mucopolysaccharidosis type II (MPS II, Hunter) is a lysosomal disease caused by mutations in the iduronate-sulfatase (IDS) gene. MPS II is inherited in an X-linked recessive manner. Mucopolysaccharidosis type III (MPS III, Sanfilippo) is an autosomal recessive lysosomal disease. It has four subtypes (A, B, C, and D). MPS II and III particularly exhibit significant central nervous system involvement. Early clinical manifestations may include cognitive delay, behavioural disturbances, progressive behaviour-sleep problems, delayed speech, autism-like features, and unexplained intellectual disability. Materials and Methods: In this retrospective study, we recorded the clinical findings of patients who were diagnosed with mucopolysaccharidosis type II and III and presented with neuropsychiatric symptoms such as seizures, developmental delay, speech impairment, and loss of neurological milestones. Results: The study included eleven cases, comprising 6 (54.5%) males and 5 (45.5%) females. Among them, 4 (50%) were diagnosed with MPS IIIA, 3 (37.5%) with MPS IIIB, and 1 (12.5%) with MPS IIIC. Six patients (54.5%) had speech delay, while two (18.1%) had cognitive delay, and three (27.2%) had hyperactivity, with nine (81.8%) experiencing motor delay. The mean age at presentation was 8.4 (±5.2 SD) years, with six patients (54.5%) receiving physical therapy and special training. Conclusion: In patients presenting with neuropsychiatric symptoms, consideration of mucopolysaccharidoses along with urine GAG, enzymatic assays and, when indicated, genetic testing is crucial for early diagnosis and intervention.

Keywords

References

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Details

Primary Language

English

Subjects

Pediatric Metabolism Diseases

Journal Section

Research Article

Authors

Publication Date

September 8, 2025

Submission Date

August 30, 2024

Acceptance Date

April 21, 2025

Published in Issue

Year 2025 Volume: 64 Number: 3

DOI

https://doi.org/10.19161/etd.1540924

IZ

https://izlik.org/JA87MJ87FT

Cite

RIS / Bibtex
Vancouver
1.Fehime Erdem Karapınar, Havva Yazıcı, Merve Yoldaş Çelik, Ayşe Yüksel Yanbolu, Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker. A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses. EJM. 2025 Sep. 1;64(3):424-30. doi:10.19161/etd.1540924

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