MPS IIID - Sanfilippo syndrome D

Stable Identifier
R-HSA-2206305
Type
Pathway
Species
Homo sapiens
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Mucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS IIID, Sanfilippo syndrome D, MIM:252940) is an autosomal recessive genetic disorder due to the loss of N-acetyl-D-glucosamine 6-sulfatase (GNS; MIM:607664), that hydrolyses the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of the glycosaminoglycans (GAGs) heparan sulfate and keratan sulfate. GNS is localized to chromosome 12q14 and has 14 exons spanning 46 kb (Robertson et al. 1988, Mok et al. 2003). Loss of enzyme activity leads to lysosomal accumulation and urinary excretion of heparan sulfate and N-acetylglucosamine 6-sulfate residues (Mok et al. 2003). Keratan sulphate does not accumulate in MPS IIID, as beta-linked N-acetyl-D-glucosamine 6-sulphate can be cleaved by beta-hexosaminidase A (Kresse et al. 1980). This disorder is characterized by progressive mental deterioration but only moderate physical abnormalities and death duing the second or third decade of life, presenting a phenotype similar to MPSIIIA (Jones et al. 1997, de Ruijter et al. 2011).

Literature References
PubMed ID Title Journal Year
9329460 Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics

Jones, MZ, Alroy, J, Rutledge, JC, Taylor, JW, Alvord, EC, Toone, J, Applegarth, D, Hopwood, JJ, Skutelsky, E, Ianelli, C, Thorley-Lawson, D, Mitchell-Herpolsheimer, C, Arias, A, Sharp, P, Evans, W, Sillence, D, Cavanagh, KT

J. Neuropathol. Exp. Neurol. 1997
6450420 Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation

Kresse, H, Paschke, E, von Figura, K, Gilberg, W, Fuchs, W

Proc Natl Acad Sci U S A 1980
21235449 Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

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

Curr Pharm Biotechnol 2011
12573255 Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase

Mok, A, Cao, H, Hegele, RA

Genomics 2003
3391615 Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14

Robertson, DA, Callen, DF, Baker, EG, Morris, CP, Hopwood, JJ

Hum. Genet. 1988
Participants
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Disease
Name Identifier Synonyms
mucopolysaccharidosis III 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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