has a Stoichiometric coefficient of 2 Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 MPS IIIA (Sanfilippo syndrome A, mucopolysaccharidosis IIIA, MIM:252900) is a rare, autosomal recessive lysosomal storage disease. A deficiency of the enzyme N-sulphoglucosamine sulphohydrolase (SGSH, MIM:605270), which normally hydrolyses the sulfate group from the terminal N-sulphoglucosamine residue of heparan sulfate (HS) leads to the build up of HS in cells and tissues, characterised by severe CNS degeneration in early childhood leading to death between 10 and 20 years of age.<br>Four mutations (R74C, R245H, S66W, and 1091delC) are known to be prevalent in Polish (Bunge et al. 1997), Dutch (Weber et al. 1997), Italian (Di Natale et al. 1998), and Spanish (Montfort et al. 1998) populations, respectively. These mutations abolish the activity of SGSH being associated with the classic severe phenotype. Reviewed: Alves, Sandra, 2012-08-27

http://purl.obolibrary.org/obo/HINO_0008152

has a Stoichiometric coefficient of 2

Reviewed: Coutinho, Maria, 2012-08-27

Edited: Jassal, B, 2012-05-21

Reviewed: Matos, Liliana, 2012-08-27

Authored: Jassal, B, 2012-05-21

MPS IIIA (Sanfilippo syndrome A, mucopolysaccharidosis IIIA, MIM:252900) is a rare, autosomal recessive lysosomal storage disease. A deficiency of the enzyme N-sulphoglucosamine sulphohydrolase (SGSH, MIM:605270), which normally hydrolyses the sulfate group from the terminal N-sulphoglucosamine residue of heparan sulfate (HS) leads to the build up of HS in cells and tissues, characterised by severe CNS degeneration in early childhood leading to death between 10 and 20 years of age.
Four mutations (R74C, R245H, S66W, and 1091delC) are known to be prevalent in Polish (Bunge et al. 1997), Dutch (Weber et al. 1997), Italian (Di Natale et al. 1998), and Spanish (Montfort et al. 1998) populations, respectively. These mutations abolish the activity of SGSH being associated with the classic severe phenotype.

Reviewed: Alves, Sandra, 2012-08-27

Reactome, http://www.reactome.org

Pubmed9285796

Pubmed9744479

Pubmed9401012

Pubmed9554748

http://purl.obolibrary.org/obo/HINO_0006922

http://purl.obolibrary.org/obo/CHEBI_15377

Defective SGSH does not hydrolyse sulfates from SGlcN

Defective SGSH does not hydrolyse sulfates from N-sulphoglucosamine in HS

HINO:0008152

Defective SGSH does not hydrolyse sulfates from SGlcN

Reactome Database ID Release 432263444

ReactomeREACT_147832

http://purl.obolibrary.org/obo/INO_0000040