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N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene. [5][6] A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270).

2024年12月25日 · SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidosis, Type Iiia and Mucopolysaccharidosis Iii. Among its related pathways are Glycosaminoglycan metabolism and Diseases of glycosylation.

Learn about this gene and related health conditions.

Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane.

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of …

2024年12月10日 · Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model. Title: Enzyme replacement reduces neuropathology in MPS IIIA dogs.

In enzymology, a N-sulfoglucosamine sulfohydrolase (EC 3.10.1.1), otherwise known as SGSH, is an enzyme that catalyzes the chemical reaction. Thus, the two substrates of this enzyme are N-sulfo-D-glucosamine and H 2 O, whereas its two products are D-glucosamine and sulfate.

Deficient N -sulfoglucosamine sulfohydrolase (SGSH) enzyme activity causes mucopolysaccharidosis (MPS) type IIIA. A fluorimetric SGSH activity assay is commonly used to examine patient cells. Here, we modified this method for brain homogenates and define the parameters for assay linearity. SGSH activity was suppressed outside of these parameters.

Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model. Observational study of gene-disease association. (HuGE Navigator)