Editorial: Molecular Aspects of Mucopolysaccharidoses

Węgrzyn, Grzegorz; Pierzynowska, Karolina; Pavone, Luigi Michele

doi:10.3389/fmolb.2022.874267

Cited by 10 publications

(19 citation statements)

References 12 publications

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“…Despite the common primary cause of the Sanfilippo syndrome, a genetic defect resulting in impaired degradation of HS, the course of the disease may vary considerably from patient to patient. [1][2][3][4][5][6][7] Therefore any recommendations for management of the disease in every MPS III patient are extremely difficult, if not impossible. Nevertheless, as discussed in previous chapters, some general advices can be proposed which should be helpful in providing the most effective care to the patients and their families.…”

Section: Recommendations Regarding Special Care and Schedules Of Asse...mentioning

confidence: 99%

“…As depicted in Figure 2, there are many potential manifestations which may or may not appear in different patients; the only exception is occurrence of neurocognitive disorders in virtually all children suffering from MPS III. [1][2][3][4][5][6][7] Nevertheless, this means that it is not sufficient to ensure the care of a geneticist, neurologist and specialist in the field of metabolic diseases. Regular visits to orthopedic, ENT (ear, nose and throat), pulmonary, cardiology, and gastroenterology clinics are also highly recommended.…”

Section: Recommendations Regarding Special Care and Schedules Of Asse...mentioning

confidence: 99%

“…[1][2][3][4] There are five subtypes of MPS III (A, B, C, D, and E), classified on the basis of the kind of mutated gene, and deficiency of specific enzyme (Table 1). [5][6][7] Four of these subtypes (A, B, C, and D) have been found in humans, while subtype E is currently known only from studies on an animal model, a mutant mice, constructed in the laboratory, with dysfunctional ARSG gene. [8][9][10] Therefore, although incompletely degraded HS is stored in each Sanfilippo disease subtype, every individual subtype is characterized by inhibition of decay of this GAG at specific stage of the process, being formally a separate metabolic disorder.…”

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

“…All these diseases are inherited in an autosomal recessive manner, as residual activity of any enzyme involved in HS degradation at the level of 10-20% of the normal activity may ensure efficient decay process. [1][2][3][4][5][6][7] Because HS is present in virtually all tissues and organs, its storage affects majority of organs. Nevertheless, in Sanfilippo syndrome, symptoms occurring in visceral organs are milder than those in other types of MPS.…”

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

“…Proposed therapeutic approaches include enzyme replacement therapy, substrate reduction therapy, gene therapy, and others, however, none of them revealed sufficient efficacy in clinical trials, and no drug for MPS III has been registered. These problems have been reviewed recently in details by various authors [1][2][3][4][5][6]11,[13][14][15][16][17] ; thus, we will not focus on them in this review article. However, due to severity of the disease and a lack of specific treatment, there are serious problems with managing this condition.…”

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

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Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Cyske¹,

Anikiej-Wiczenbach²,

Wiśniewska³

et al. 2022

JMDH

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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.

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Section: Recommendations Regarding Special Care and Schedules Of Asse...mentioning

confidence: 99%

Section: Recommendations Regarding Special Care and Schedules Of Asse...mentioning

confidence: 99%

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

See 3 more Smart Citations

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Cyske¹,

Anikiej-Wiczenbach²,

Wiśniewska³

et al. 2022

JMDH

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Further characterization of ARSK‐related mucopolysaccharidosis type 10

Uludağ Alkaya,

Taner,

Yıldırım

et al. 2024

American J of Med Genetics Pt A

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Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK‐related MPS type 10. Interestingly, vertebral involvement regressed during follow‐up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long‐term results on a recently discovered form of MPS.

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