MPS IIIB - Sanfilippo syndrome B

Stable Identifier
Homo sapiens
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Mucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type IIIB, MPS IIIB, Sanfilippo syndrome type B; MIM:252920) is an autosomal recessive genetic disorder due to loss of function of alpha-N-acetylglucosaminidase (NAGLU; MIM:609701), involved in the hydrolysis of terminal non-reducing N-acetylglucosamine residues in heparan sulfate (HS) The gene encoding NAGLU was cloned in 1996 by Zhao and colleagues. It contains 6 exons and spans 8.3 kb on chromosome 17q21 (Zhao et al. 1996). MPSIIIB is characterized by severe CNS retardation but only mild somatic disease and death usually occurs in the second or third decade of life (Zhao et al. 1996, Yogalingam & Hopwood 2001, de Ruijter et al. 2011). MPS IIIB shows extensive molecular heterogeneity (Schmidtchen et al. 1998).
Literature References
PubMed ID Title Journal Year
8650226 The molecular basis of Sanfilippo syndrome type B

Neufeld, EF, Schmidtchen, A, Zhao, HG, Bach, G, Li, HH

Proc Natl Acad Sci U S A 1996
9443878 NAGLU mutations underlying Sanfilippo syndrome type B

Neufeld, EF, Zhao, Z, Tieu, P, Huang, Y, Zhao, HZ, Schmidtchen, A, Zhao, HG, Whitley, CB, Greenberg, D, Cheng, S, Li, HH, Di Natale, P

Am J Hum Genet 1998
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Hopwood, JJ, Yogalingam, G

Hum Mutat 2001
21235449 Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

Valstar, MJ, Wijburg, FA, de Ruijter, J

Curr Pharm Biotechnol 2011
Name Identifier Synonyms
mucopolysaccharidosis III DOID:12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
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