MPS IIIC - Sanfilippo syndrome C

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). Mucopolysaccharidosis type IIIC (MPS IIIC, Sanfilippo syndrome C; MIM:252930) is an autosomal recessive genetic disorder due to the loss of heparan alpha-glucosaminide N-acetyltransferase (HGSNAT; MIM:610453) that normally acetylates the non-reducing terminal alpha-glucosamine residue of heparan sulfate. The molecular defects underlying MPS IIIC remained unknown for almost three decades due to the low tissue content and instability of HGSNAT. But, during the last decade, the gene was cloned in parallel by two different groups and shown to contain 18 exons and span approximately 62Kb (Fan et al. 2006, Hrebicek et al. 2006). Loss of HGSNAT results in build up of this glycosaminglycan (GAG) in cells and tissues and is characterized by severe central nervous system degeneration but only with mild somatic disease and death occurs typically during the second or third decade of life (Kresse et al. 1978, Klein et al. 1978, Feldhammer et al. 2009, de Ruijter et al. 2011).
Literature References
PubMed ID Title Journal Year
16960811 Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

Mahuran, DJ, Callahan, JW, Zhang, H, Zhang, S, Tropak, MB, Fan, X, Bagshaw, RD

Am J Hum Genet 2006
17033958 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Urinovská, J, Roquis, D, Beesley, CE, Seyrantepe, V, Maire, I, Roslin, NM, Fujiwara, TM, Hartmannová, H, Kmoch, S, Durand, S, Morgan, K, Hudson, TJ, Pshezhetsky, AV, Zeman, J, Stranecký, V, Poupetová, H, van Diggelen, OP, Nosková, L, Hrebícek, M, Majewski, J, Mrázová, L, Poorthuis, BJ, Sikora, J, Cízkova, A, van de Kamp, J, Lepage, P, Wevers, RA, Ausseil, J, Verner, A, Ivánek, R

Am J Hum Genet 2006
153835 A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients

Klein, U, von Figura, K, Kresse, H

Eur J Biochem 1978
33384 Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

von Figura, K, Klein, U, Kresse, H

Proc Natl Acad Sci U S A 1978
21235449 Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

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

Curr Pharm Biotechnol 2011
19479962 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

Durand, S, Feldhammer, M, Steinfeld, R, Kmoch, S, Boucher, RM, Pshezhetsky, AV, Michelakakis, H, Laframboise, R, Hrebícek, M, Wraith, JE, Mrázová, L, van Diggelen, OP

Hum. Mutat. 2009
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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