Novel therapies for mucopolysaccharidosis type III
نویسندگان
چکیده
منابع مشابه
Glycosaminoglycans and mucopolysaccharidosis type III.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
متن کاملA mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections reve...
متن کاملMucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies.
Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review wil...
متن کاملCognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
BACKGROUND Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is th...
متن کاملMorphology in mucopolysaccharidosis type III: specific diagnostic features.
A 6-year-old girl from Pakistan was investigated for neurologic symptoms also affecting 3 other family members. She was the sixth child of parents who were first cousins, born at term with normal birth weight. Developmental milestones were normal until 5 years old when she developed restless behavior, loss of motor skills, stiff gait, muscular spasticity, hepatosplenomegaly, and dysmorphic faci...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2020
ISSN: 0141-8955,1573-2665
DOI: 10.1002/jimd.12316