SGSH

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). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.{{cite journal | vauthors = Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P | title = Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects | journal = Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | volume = 1501 | issue = 1 | pages = 1–11 | date = Apr 2000 | pmid = 10727844 | doi = 10.1016/s0925-4439(99)00118-0 | doi-access = free }} MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported{{cite journal | vauthors = van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA | title = Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) | journal = Clinical Genetics | volume = 20 | issue = 2 | pages = 152–60 | date = Aug 1981 | pmid = 6796310 | doi = 10.1111/j.1399-0004.1981.tb01821.x | s2cid = 24826103 }} to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.

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• {{cite journal | vauthors = Yogalingam G, Hopwood JJ | title = Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications | journal = Human Mutation | volume = 18 | issue = 4 | pages = 264–81 | date = Oct 2001 | pmid = 11668611 | doi = 10.1002/humu.1189 | s2cid = 25731955 | doi-access = free }}
• {{cite journal | vauthors = van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA | title = Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) | journal = Clinical Genetics | volume = 20 | issue = 2 | pages = 152–60 | date = Aug 1981 | pmid = 6796310 | doi = 10.1111/j.1399-0004.1981.tb01821.x | s2cid = 24826103 }}
• {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
• {{cite journal | vauthors = Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ | title = Structure and sequence of the human sulphamidase gene | journal = DNA Research | volume = 3 | issue = 4 | pages = 269–71 | date = Aug 1996 | pmid = 8946167 | doi = 10.1093/dnares/3.4.269 | doi-access = free }}
• {{cite journal | vauthors = Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ | title = Molecular defects in Sanfilippo syndrome type A | journal = Human Molecular Genetics | volume = 6 | issue = 5 | pages = 787–91 | date = May 1997 | pmid = 9158154 | doi = 10.1093/hmg/6.5.787 | doi-access = free }}
• {{cite journal | vauthors = Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ | title = Novel mutations in Sanfilippo A syndrome: implications for enzyme function | journal = Human Molecular Genetics | volume = 6 | issue = 9 | pages = 1573–9 | date = Sep 1997 | pmid = 9285796 | doi = 10.1093/hmg/6.9.1573 | doi-access = free }}
• {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
• {{cite journal | vauthors = Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A | title = Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) | journal = Human Mutation | volume = 10 | issue = 6 | pages = 479–85 | year = 1998 | pmid = 9401012 | doi = 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X | s2cid = 41252897 | doi-access = free }}
• {{cite journal | vauthors = Bielicki J, Hopwood JJ, Melville EL, Anson DS | title = Recombinant human sulphamidase: expression, amplification, purification and characterization | journal = The Biochemical Journal | volume = 329 | issue = Pt 1 | pages = 145–50 | date = Jan 1998 | pmid = 9405287 | pmc = 1219025 | doi = 10.1042/bj3290145}}
• {{cite journal | vauthors = Di Natale P, Balzano N, Esposito S, Villani GR | title = Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations | journal = Human Mutation | volume = 11 | issue = 4 | pages = 313–20 | year = 1998 | pmid = 9554748 | doi = 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P | s2cid = 22780764 | doi-access = }}
• {{cite journal | vauthors = Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ | title = Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands | journal = Journal of Inherited Metabolic Disease | volume = 21 | issue = 4 | pages = 416–22 | date = Jun 1998 | pmid = 9700599 | doi = 10.1023/A:1005362826552 | s2cid = 9346499 | doi-access = free }}
• {{cite journal | vauthors = Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D | title = Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients | journal = Human Mutation | volume = 12 | issue = 4 | pages = 274–9 | year = 1998 | pmid = 9744479 | doi = 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F | s2cid = 23900430 | doi-access = free }}
• {{cite journal | vauthors = Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R | title = Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele | journal = Prenatal Diagnosis | volume = 19 | issue = 10 | pages = 993–4 | date = Oct 1999 | pmid = 10521831 | doi = 10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L | s2cid = 28276965 }}
• {{cite journal | vauthors = Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P | title = Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects | journal = Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | volume = 1501 | issue = 1 | pages = 1–11 | date = Apr 2000 | pmid = 10727844 | doi = 10.1016/s0925-4439(99)00118-0 | doi-access = free }}
• {{cite journal | vauthors = Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L | title = Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation | journal = American Journal of Medical Genetics | volume = 100 | issue = 3 | pages = 223–8 | date = May 2001 | pmid = 11343308 | doi = 10.1002/ajmg.1248 }}
• {{cite journal | vauthors = Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ | title = Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B | journal = Human Mutation | volume = 19 | issue = 2 | pages = 184–5 | date = Feb 2002 | pmid = 11793481 | doi = 10.1002/humu.9009 | s2cid = 35508263 | doi-access = free }}
• {{cite journal | vauthors = Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A | title = Analysis of Sanfilippo A gene mutations in a large pedigree | journal = Clinical Genetics | volume = 63 | issue = 4 | pages = 314–8 | date = Apr 2003 | pmid = 12702166 | doi = 10.1034/j.1399-0004.2003.00053.x | s2cid = 39262556 }}

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{{Glycosaminoglycan catabolism}}

{{gene-17-stub}}