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Review
. 2022 Sep 19:15:2097-2110.
doi: 10.2147/JMDH.S362994. eCollection 2022.

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Zuzanna Cyske  1 , Paulina Anikiej-Wiczenbach  2 , Karolina Wisniewska  1 , Lidia Gaffke  1 , Karolina Pierzynowska  1 , Arkadiusz Mański  2 , Grzegorz Wegrzyn  1
Affiliations
Review

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Zuzanna Cyske et al. J Multidiscip Healthc. .

Abstract

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disease grouping five genetic disorders, four of them occurring in humans and one known to date only in a mouse model. In every subtype of MPS III (designed A, B, C, D or E), a lack or drastically decreased activity of an enzyme involved in the degradation of heparan sulfate (HS) (a compound from the group of glycosaminoglycans (GAGs)) arises from a genetic defect. This leads to primary accumulation of HS, and secondary storage of other compounds, combined with changes in expressions of hundreds of genes and many defects in organelles and various biochemical processes in the cell. As a result, dysfunctions of tissues and organs occur, leading to severe symptoms in patients. Although changes in somatic organs are considerable, the central nervous system is especially severely affected, and neurological, cognitive and behavioral disorders are the most significant changes, making the disease enormously burdensome for patients and their families. In the light of the current lack of any registered therapy for Sanfilippo syndrome (despite various attempts of many research groups to develop effective treatment, still no specific drug or procedure is available for MPS III), optimizing care with a multidisciplinary approach is crucial for managing this disease and making quality of patients' life passable. This includes efforts to make/organize (i) accurate diagnosis as early as possible (which is not easy due to various possible misdiagnosis events caused by similarity of MPS III symptoms to those of other diseases and variability of patients), (ii) optimized symptomatic treatment (which is challenging because of complexity of symptoms and often untypical responses of MPS III patients to various drugs), and (iii) psychological care (for both patients and family members and/or caregivers). In this review article, we focus on these approaches, summarizing and discussing them.

Keywords: accurate diagnosis; mucopolysaccharidosis type III; psychological care; symptomatic treatment.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Summary of recommended diagnostic procedures to identify Sanfilippo disease.
Figure 2
Figure 2
Possibilities of symptomatic treatments of patients suffering from Sanfilippo disease.
Figure 3
Figure 3
Summary of the psychological approach in Sanfilippo disease.
See this image and copyright information in PMC

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References

    1. Benetó N, Vilageliu L, Grinberg D, Canals I. Sanfilippo syndrome: molecular basis, disease models and therapeutic approaches. Int J Mol Sci. 2020;21(21):7819. doi:10.3390/ijms21217819 - DOI - PMC - PubMed
    1. Pierzynowska K, Rintz E, Gaffke L, et al. Mucopolysaccharidosis type III (Sanfilippo disease) subtypes A, B, C, D: molecular mechanism and therapeutic effect. In: Surendran S, editor. Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease. Hauppauge NY, USA: Nova Science Publishers, Inc; 2020:51–101.
    1. Spahiu L, Behluli E, Peterlin B, et al. Mucopolysaccharidosis III: molecular basis and treatment. Pediatr Endocrinol Diabetes Metab. 2021;27:201–208. doi:10.5114/pedm.2021.109270 - DOI - PMC - PubMed
    1. Kaczor-Kamińska M, Kamiński K, Wróbel M. Heparan sulfate, Mucopolysaccharidosis IIIB and sulfur metabolism disorders. Antioxidants. 2022;11:678. doi:10.3390/antiox11040678 - DOI - PMC - PubMed
    1. Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet. 2015;8:269–281. doi:10.2147/TACG.S57672 - DOI - PMC - PubMed