Skip to main content
SpringerLink
Log in

Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies

  • Chapter
Lysosomal Storage Disorders

This chapter aims to briefly review the natural history, pathophysiology, clinical features, and molecular genetics of Sanfilippo syndrome, together with current and emerging advances and future perspectives, particularly to achieve early diagnosis and effective therapy. Sanfilippo syndrome has a systematic name of mucopolysaccharidosis type III (MPS III). It is an autosomal-recessive lysosomal storage disorder (LSD) that affects about 1 in 70,000 live births (Meikle et al., 1999; Poorthuis et al., 1999). Sanfilippo syndrome is the most common MPS, and represents four biochemically distinct disorders, each of which results from a deficiency of one of four enzymes required for the lysosomal degradation of the glycosaminoglycan (GAG) heparan sulfate (HS): sulfamidase (MPS IIIA); α-Nacetylglucosaminidase (MPS IIIB); acetyl Co:A glucosamine N-acetyl transferase (MPS IIIC); and glucosamine-6-sulfatase (MPS IIID). Fragments of partially degraded HS accumulate in lysosomes and are elevated in the urine of all Sanfilippo patients. Genes for all but one (type C) of the four MPS III types have been characterized and used to identify mutations that lead to a deficiency of the enzyme product, storage of HS fragments, and the Sanfilippo phenotype. No currently available therapies are yet able alter the natural history of Sanfilippo syndrome. The grouping and in-depth study of the genes and enzyme systems involved in this syndrome have provided extensive insight and appreciation of cellular processes involved in the systematic turnover of HS. This insight is slowly but surely identifying options for the development of potential therapies.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 139.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 179.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB (2000) Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68: 80-4.

    Article  CAS  PubMed  Google Scholar 

  • Ausseil J, Loredo-Osti JC, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen OP, Hudson TJ, Fujiwara TM, Morgan K, Pshezhetsky AV (2004) Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J Med Genet. 41: 941-5.

    Article  CAS  PubMed  Google Scholar 

  • Barone R, Fiumara A, Villani GR, Di Natale P, Pavone L (2001) Extraneurologic symptoms as presenting signs of Sanfilippo disease. Pediatr Neurol. 2001 Sep;25(3): 254-7.

    Article  CAS  PubMed  Google Scholar 

  • Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP (2003) Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene J Med Genet. 40: 192-4.

    Article  CAS  PubMed  Google Scholar 

  • Bhattacharyya R, Gliddon B, Beccari T, Hopwood JJ, Stanley P (2001) A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11: 99-103.

    Article  CAS  PubMed  Google Scholar 

  • Bhaumik M, Muller VJ, Rozaklis T, Johnson L, Dobrenis K, Bhattacharyya R, Wurzelmann S, Finamore P, Hopwood JJ, Walkley SU, Stanley P (1999) A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9: 1389-96.

    Article  CAS  PubMed  Google Scholar 

  • Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A (1997) Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat. 10: 479-85.

    Article  CAS  PubMed  Google Scholar 

  • Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ (1998) Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab 65: 282-290.

    Article  CAS  PubMed  Google Scholar 

  • Cavanagh KT, Leipprandt JR, Jones MZ, Friderici K (1995) Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5’-region of the coding sequence. J Inherit Metab Dis. 18: 96.

    Article  CAS  PubMed  Google Scholar 

  • Ceuterick C, Martin JJ, Libert J, Farriaux JP (1980) Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases. Neuropadiatrie 11: 176-85.

    Article  CAS  PubMed  Google Scholar 

  • Cressant A, Desmaris N, Verot L, Brejot T, Froissart R, Vanier MT, Maire I, Heard JM (2004) Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci. 24: 10229-39.

    Article  CAS  PubMed  Google Scholar 

  • Dasgupta F, Masada RI (2002) Synthesis of7-O-(2-deoxy-2-sulfamido-alpha-D-glucopyranosyl)-4-methylcoumarin sodium salt: a fluorogenic substrate for sulfamidase. Carbohydr Res. 337: 1055-8.

    Article  CAS  PubMed  Google Scholar 

  • Date Y, Ohi T, Shioya K, Sukegawa K, Matsukura S (1998) Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type Brain Nerve 50: 165-9.

    CAS  Google Scholar 

  • Dhallan R, Au WC, Mattagajasingh S, Emche S, Bayliss P, Damewood M, Cronin M, Chou V, Mohr M (2004) Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA. 291:1114-9.

    Article  CAS  PubMed  Google Scholar 

  • Di Natale P, Balzano N, Esposito S, Villani GR (1998) Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 11: 313-20.

    Article  CAS  PubMed  Google Scholar 

  • Di Natale P, Di Domenico C, Gargiulo N, Castaldo S, Gonzalez Y, Reyero E, Mithbaokar P, De Felice M, Follenzi A, Naldini L, Villani GR (2005) Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. Biochem J. 388: 639-46.

    Article  CAS  PubMed  Google Scholar 

  • Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, Decker S, Edwards NJ, Bublot I, Thompson JN, Bush W, Hardam E, Haskins ME, Giger U (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489-504.

    Article  CAS  PubMed  Google Scholar 

  • Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J (2005) Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N England J Med 352: 2069-81.

    Article  CAS  Google Scholar 

  • Freeman C, Hopwood JJ (1986) Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties. Biochem J. 234(1): 83-92.

    CAS  PubMed  Google Scholar 

  • Freeman C, Hopwood JJ (1987) Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties. Biochem J. 246: 355-65.

    CAS  PubMed  Google Scholar 

  • Freeman C, Clements PR, Hopwood JJ (1987) Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization. Biochem J. 246: 347-54.

    CAS  PubMed  Google Scholar 

  • Freeman C, Hopwood JJ (1991) Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates. Biochem J. 279: 399-405.

    CAS  PubMed  Google Scholar 

  • Fuller M, Meikle PJ, Hopwood JJ (2004a) Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology 14: 443-50.

    Article  CAS  Google Scholar 

  • Fuller M, Rozaklis T, Ramsay SL, Hopwood JJ, Meikle PJ (2004b) Disease-specific markers for the mucopolysaccharidoses. Pediatr Res. 56: 733-8.

    Article  CAS  Google Scholar 

  • Fuller M, Chau A, Nowak RC, Hopwood JJ, Meikle PJ (2006) A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates. Glycobiology 16:318-325.

    Article  CAS  PubMed  Google Scholar 

  • Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P (2005) An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. Am J Med Genet A. 133(1): 85-9.

    Google Scholar 

  • Gerber SA, Scott CR, Turecek F, Gelb MH (2001) Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology. Anal Chem. 73: 1651-7.

    Article  CAS  PubMed  Google Scholar 

  • Gerber SA, Turecek F, Gelb MH (2001) Bioconjug Chem. 12: 603-15.

    Article  CAS  PubMed  Google Scholar 

  • Gliddon BL, Hopwood JJ (2004) Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatr Res. 56: 65-72.

    Article  CAS  PubMed  Google Scholar 

  • Gliddon BL, Yogalingam G, Hopwood JJ (2004) Purification and characterization of recombinant murine sulfamidase. Mol Genet Metab. 83: 239-45.

    Article  CAS  PubMed  Google Scholar 

  • He W, Voznyi YaV, Boer AM, Kleijer WJ, van Diggelen OP (1993) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID). J Inherit Metab Dis. 16: 935-41.

    Article  CAS  PubMed  Google Scholar 

  • He W, Voznyi YaV, Huijmans JG, Geilen GC, Karpova EA, Dudukina TV, Zaremba J, Van Diggelen OP, Kleijer WJ (1994) Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay. Prenat Diagn. 14: 17-22.

    Article  CAS  PubMed  Google Scholar 

  • Hemsley KM, Hopwood JJ (2005) Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav Brain Res. 158: 191-9.

    Article  CAS  PubMed  Google Scholar 

  • Hoogerbrugge PM, Brouwer OF, Bordigoni P, Ringden O, Kapaun P, Ortega JJ, O’Meara A, Cornu G, Souillet G, Frappaz D, et al (1995) Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 345: 1398-402.

    Article  CAS  PubMed  Google Scholar 

  • Hopwood JJ (2005) Prenatal diagnosis of Sanfilippo syndrome. Prenat Diagn. 25:148-50.

    Article  PubMed  Google Scholar 

  • Hopwood JJ, Elliott (1981) The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity. Clin Chim Acta. 112: 67-75.

    Article  CAS  PubMed  Google Scholar 

  • Hopwood JJ, Elliott H (1982a) Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. Clin Chim Acta. 120: 77-86.

    Article  CAS  Google Scholar 

  • Hopwood JJ, Elliott H (1982b) Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Clin Chim Acta. 123: 241-50.

    Article  CAS  Google Scholar 

  • Hopwood JJ, Harrison JR (1982) High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem. 119: 120-7.

    Article  CAS  PubMed  Google Scholar 

  • Hopwood JJ, Morris CP (1990) The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment. Mol Biol Med. 7: 381-404.

    CAS  PubMed  Google Scholar 

  • Hopwood JJ, Ballibio A (2001) In: The Metabolic and Molecular Bases of Inherited Disease.(Scriver CR, Beaudet AL, Sly WS and Valle D, eds.),8th edition. McGraw-Hill, New York, pp. 3725-32.

    Google Scholar 

  • Jolly RD, Allan FJ, Collett M, Rozaklis T, Muller V, Hopwood JJ (2000) Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. N Z Vet J. 48: 144-8.

    CAS  PubMed  Google Scholar 

  • Kaplan D (1969) Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria.Amer. J Med 47: 721.

    Article  CAS  Google Scholar 

  • Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ (1996) Structure and sequence of the human sulphamidase gene. DNA Res. 3: 269-71.

    Article  CAS  PubMed  Google Scholar 

  • Karpova EA, Voznyi YaV, Keulemans JL, Hoogeveen AT, Winchester B, Tsvetkova IV, van Diggelen OP (1996) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis. 19(3): 278-85.

    Article  CAS  PubMed  Google Scholar 

  • King B, Savas P, Fuller M, Hopwood J, Hemsley K (2006) Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopoly-saccharidosis type IIIA. Mol Genet Metab 87: 107-112.

    Article  CAS  PubMed  Google Scholar 

  • Kresse H, Wiesman U, Cantz M, Hall CW, Neufeld EF (1971) Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun 42: 892-8.

    Article  CAS  PubMed  Google Scholar 

  • Kresse H and Neufeld EF (1972) J Biol Chem 247: 2164-70.

    CAS  PubMed  Google Scholar 

  • Kurtzberg J, Laughlin M, Graham ML, Smith C, Olson JF, Halperin EC, Ciocci G, Carrier C, Stevens CE, Rubinstein P (1996) Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. N England J Med 335: 157-66.

    Article  CAS  Google Scholar 

  • Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A. 96: 14505-10.

    Article  CAS  PubMed  Google Scholar 

  • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH (2004) Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem. 50: 1785-96.

    Article  CAS  PubMed  Google Scholar 

  • Lindor NM, Hoffman A, O’Brien JF, Hanson NP, Thompson JN (1994) Sanfilippo syndrome type A in two adult sibs. Am J Med Genet 53: 241-4.

    Article  CAS  PubMed  Google Scholar 

  • Mason KE, Meikle PJ, Hopwood JJ, Fuller M (2006) Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry. Anal Chem; 78:4534-42.

    Article  CAS  PubMed  Google Scholar 

  • Marsh J, Fensom, AH (1985) 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin. Genet. 27: 258-62.

    Article  CAS  PubMed  Google Scholar 

  • McGlynn R, Dobrenis K, Walkley SU (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol. 480: 415-26.

    Article  CAS  PubMed  Google Scholar 

  • McKusick VA (1966) Heritable disorders of connective tissue, Ed 3, p 325, CV Mosby, St Louis

    Google Scholar 

  • Meikle PJ, Whittle AM, Hopwood JJ (1995) Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. Biochem J. 308: 327-33.

    CAS  PubMed  Google Scholar 

  • Miyazaki T, Musuda N, Waragai M, Motoyoshi Y, Kurokawa K, Yuasa T (2002) An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene J Neurol NNeurosurg Psych 73:777-8.

    Article  CAS  Google Scholar 

  • Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281: 249-54.

    Article  CAS  PubMed  Google Scholar 

  • Meikle PJ, Dean CJ, Grasby D, Bockmann MR, Whittle AM, Lang DL, Fuller M, Brooks DA, Hopwood JJ (2005) J Inherit Met Dis 28:14.

    Google Scholar 

  • Mok A, Cao H, Hegele RA (2003) Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics 81: 1-5.

    Article  CAS  PubMed  Google Scholar 

  • Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabas A, Grinberg D (1998) Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Hum Mutat.12: 274-9.

    Article  CAS  PubMed  Google Scholar 

  • Perkins KJ, Byers S, Yogalingam G, Weber B, Hopwood JJ (1999) Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. J Biol Chem. 274: 37193-9.

    Article  CAS  PubMed  Google Scholar 

  • Perkins KJ, Muller V, Weber B, Hopwood JJ (2001) Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab. 73: 306-12.

    Article  CAS  PubMed  Google Scholar 

  • Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 105(1-2): 151-6.

    Article  CAS  PubMed  Google Scholar 

  • Roberts ALK, Thomas BJ, Wilkinson AS, Byers S (2004) 8 th International Symposium of Mucopolysaccharide and Related Desease, June 10 - 13 abstract V30, Mainz, Germany.

    Google Scholar 

  • Robertson DA, Freeman C, Nelson PV, Morris CP, Hopwood JJ (1988) Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase Biochem Biophys Res Commun. 157: 218-24.

    CAS  Google Scholar 

  • Robertson DA, Freeman C, Morris CP, Hopwood JJ (1992) A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. Biochem J. 288: 539-44.

    CAS  PubMed  Google Scholar 

  • Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (1995) Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet. 11: 465-7.

    Article  CAS  PubMed  Google Scholar 

  • Sivakumur P, Wraith JE (1999) Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis. 22: 849-50.

    Article  CAS  PubMed  Google Scholar 

  • Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J (2004) Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome N England J Med 350: 1960-9.

    Article  CAS  Google Scholar 

  • Tamagawa K, Morimatsu Y, Fujisawa K, Hara A, Taketomi T (1985) Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B. Brain Dev. 7: 599-609.

    CAS  PubMed  Google Scholar 

  • Thompson JN, Jones MZ, Dawson G, Huffman PS (1992) N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J Inherit Metab Dis. 15: 760-8.

    Article  CAS  PubMed  Google Scholar 

  • Thornhill AR, Snow K (2002) Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn. 4: 11-29.

    CAS  PubMed  Google Scholar 

  • Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Kuwahara J, Yamanaka S, Itoh K (2005) Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. J Neurochem 92: 1497-507.

    Article  CAS  PubMed  Google Scholar 

  • Umapathysivam K, Hopwood JJ, Meikle PJ (2001) Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem. 47: 1378-83.

    CAS  PubMed  Google Scholar 

  • Urayana A, Grubb JH, Sly WS, Banks WA (2004) Proc Natl Acad Sci U S A. 101:12658-63.

    Article  Google Scholar 

  • Van Hove JL, Wevers RA, Van Cleemput J, Moerman P, Sciot R, Matthijs G, Schollen E, de Jong JG, Carey WF, Muller V, Nicholls C, Perkins K, Hopwood JJ (2003) Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. Am J Med Genet A118: 382-7.

    Article  Google Scholar 

  • Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH (2005) Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem. 51: 898-900.

    Article  CAS  PubMed  Google Scholar 

  • Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet. 5: 771-7.

    Article  CAS  PubMed  Google Scholar 

  • Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ (1998) Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J Inherit Metab Dis. 21: 416-22.

    Article  CAS  PubMed  Google Scholar 

  • Wisniewski K, Rudelli R, Laure-Kamionowska M, Sklower S, Houck GE Jr, Kieras F, Ramos P, Wisniewski HM, Braak H (1985) Sanfilippo disease, type A with some features of ceroid lipofuscinosis. Neuropediatrics 16: 98-105.

    Article  CAS  PubMed  Google Scholar 

  • Yogalingam G, Hopwood JJ (2001) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat. 18: 264-81.

    Article  CAS  PubMed  Google Scholar 

  • Yogalingam G, Pollard T, Gliddon B, Jolly RD, Hopwood JJ (2002) Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics. 79: 150-3.

    Article  CAS  PubMed  Google Scholar 

  • Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (1996) The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A. 93: 6101-5.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children Youth and Women's Health Service, SA 5006, North Adelaide, Australia

    John J. Hopwood

Authors
  1. John J. Hopwood
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Hopwood, J.J. (2007). Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies. In: Lysosomal Storage Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70909-3_26

Download citation

Publish with us

Policies and ethics

Search

Navigation