Sanfilippo syndrome , also known as mucopolysaccharidosis type III MPS III , is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called glycosaminoglycans AKA GAGs, or mucopolysaccharides in the body's lysosomes. Affected children generally do not show any signs or symptoms at birth. In early childhood, they begin to develop developmental disability and loss of previously learned skills. In later stages of the disorder, they may develop seizures and movement disorders. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood.
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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.
Given that few reviews of MPS III have been published, several studies were compiled to establish diagnostic recommendations. Quantitative urinary glycosaminoglycan analysis is strongly recommended, and measurement of disaccharides, heparin cofactor II-thrombin complex and gangliosides is also used. Although there is no global consensus for treatment, enzyme replacement therapy and gene therapy can provide appropriate results.
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Abstract 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. Similar articles Glycosaminoglycans and mucopolysaccharidosis type III. Jakobkiewicz-Banecka J, et al. Front Biosci Landmark Ed. PMID: Review. Osipova LA, et al. Vestn Ross Akad Med Nauk.
Gilkes JA, et al. Pediatr Endocrinol Rev. Zhang WM, et al. Zhonghua Er Ke Za Zhi. PMID: Chinese. Bodamer OA, et al. Mol Genet Metab. Epub Jul Show more similar articles See all similar articles. J Clin Med. Ophthalmological Findings in Mucopolysaccharidoses. Tomatsu S, et al. Clark WT, et al. Hum Mutat. Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.
Shapiro E, et al. Orphanet J Rare Dis. Ellison SM, et al. Mol Ther Methods Clin Dev. Show more "Cited by" articles See all "Cited by" articles. Publication types Review Actions. Global Health Actions. Humans Actions. Morbidity Actions. Substances Glycosaminoglycans Actions. Full-text links [x] Wiley.
Sanfilippo Syndrome: Overall Review
Muenzer J. The mucopolysaccharidoses: a heterogeneus group of disorders with variable pediatric presentations. J Pediatr ;SS Prevalence of lysosomal storage disorders. JAMA ;
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