Sanfilippo syndrome: Overall review

@article{Andrade2015SanfilippoSO,
  title={Sanfilippo syndrome: Overall review},
  author={Fernando Andrade and Luis Ald{\'a}miz-Echevarr{\'i}a and Marta Llarena and Mar{\'i}a Luz Couce},
  journal={Pediatrics International},
  year={2015},
  volume={57},
  pages={331 - 338}
}
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. It is characterized by progressive cognitive decline and severe hyperactivity, with relatively mild somatic features. This review focuses on clinical features, diagnosis, treatment, and follow‐up of MPS III, and provides information about supplementary tests and differential diagnosis… Expand
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TLDR
Clinical symptoms of each MPS type as they initially appear in patients, biochemical and molecular diagnostic methods, and the future of newborn screening for this group of disorders are discussed. Expand
How close are we to therapies for Sanfilippo disease?
TLDR
Although no therapy is available for Sanfilippo disease now, recent years did bring important breakthroughs in this aspect, and clinical trials are being conducted with enzyme replacement therapy, gene therapy, and substrate reduction therapy. Expand
A Cure for Sanfilippo Syndrome? A Summary of Current Therapeutic Approaches and their Promise.
TLDR
While ERT and gene therapy are the most developed therapies for MPS III, the work that needs to be done is highlighted to bring us closer to a real treatment for these devastating diseases. Expand
Sanfilippo syndrome , is an inherited Glycosaminoglycans and mucopolysaccharidosis type III
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TLDR
A case of hunter syndrome is discussed that presented in the hospital with typical features of Hunter syndrome, and was diagnosed with specific enzyme assay. Expand
Mortality in patients with Sanfilippo syndrome
TLDR
It is demonstrated that the longevity has improved significantly in patients with Sanfilippo syndrome type A over a last few decades, and there is an urgent need for effective disease-specific therapies to be developed so that the quality of life and survival of patients withSanfilippi syndrome can be improved. Expand
Ophthalmological Findings in Mucopolysaccharidoses
TLDR
While corneal clouding is the most common ocular feature of MPS (especially type I, IVA, and VI), its response to HSCT and ERT is minimal, and a direction for future studies is presented. Expand
Differences in MPS I and MPS II Disease Manifestations
TLDR
Differences in neurological involvement may be due to the increased HS levels in MPS II, because of the involvement of HS in neuronal development, and phenotypic differences appear to be related to different ratios between DS and HS, and their sulfation levels. Expand
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
TLDR
These efforts and incentives attract academic institutions and industry to provide potential therapies for MPS III, including enzyme replacement therapies, substrate reduction therapies, gene and cell therapies, and so on, which were discussed in this paper. Expand
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature
TLDR
GI manifestations may be an under-recognized but important clinical feature of MPS III patients and early recognition of GI symptoms and timely interventions is an important part of the management of Mps III patients. Expand
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References

SHOWING 1-10 OF 89 REFERENCES
Sanfilippo syndrome: A mini-review
TLDR
Although currently no effective therapy is yet available for MPS III, several promising developments raise hope that therapeutic interventions, halting the devastating mental and behavioural deterioration, might be feasible in the near future. Expand
Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies.
TLDR
This review will summarize and discuss the available and potential future therapeutic options for patients with MPS III, which includes enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), chaperone-mediated therapy, and gene therapy. Expand
Natural history of Sanfilippo syndrome in Spain
TLDR
A great allelic heterogeneity in the three subtypes without clear genotype-phenotype correlations in most cases is revealed, revealing the importance of establishing early diagnosis procedures as soon as possible to determine future short-term enzymatic or gene therapy treatments that can change the prognosis of the disease. Expand
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
TLDR
MPS IIIB comprises a remarkably wide spectrum of disease severity, and an unselected cohort including all Dutch patients showed a large proportion (79%) with an attenuated phenotype, which must be considered in patients with a developmental delay, even in the absence of a progressive decline in intellectual abilities. Expand
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
TLDR
Signs and symptoms that should alert pediatricians to the possibility of MPS types I (Hurler, Hurler-Scheie, Scheie), II (Hunter), and VI (Maroteaux-Lamy) and an overview of treatment options are provided. Expand
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiencyExpand
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
TLDR
It is demonstrated that MPS IIIC has a milder course than previously reported and that both severity and clinical course are highly variable even between sibs, complicating prediction of the clinical phenotype for individual patients. Expand
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
TLDR
Molecular characterization of Mps‐IIIA patients has revealed a high incidence of particular mutations of different geographical origins, which will be beneficial for the molecular diagnosis of MPS‐IIIB patients. Expand
Mucopolysaccharidoses and Oligosaccharidoses
TLDR
In some cases (especially in MPS-I), bone-marrow transplantation may improve the clinical course, but the value of this procedure is limited by the high risk and uncertain long-term neurological outcome. Expand
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
TLDR
Assessment of cognitive development in 73 living patients with MPS III in the Netherlands found a remarkable variation in the intellectual disability, which should be taken into account when designing therapeutic trials. Expand
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