Current and emerging treatments and surgical interventions for Morquio A syndrome: a review

References

• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–254.
   PubMed Web of Science ®Google Scholar
• Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics. 2000;105(1):e10.
   PubMed Web of Science ®Google Scholar
• Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101(3):355–358.
   Web of Science ®Google Scholar
• Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105(1–2):151–156.
   PubMed Web of Science ®Google Scholar
• Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12(2):87–92.
   PubMed Web of Science ®Google Scholar
• Morquio L. Sur une forme de dystrophie osseuse familiale. Archives de Medecine des Infants. 1929;32:129–135. French.
   Google Scholar
• Tomatsu S, Montano AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12(6):931–945.
   PubMed Web of Science ®Google Scholar
• Rodriguez M, Miller TL, Mackenzie WG, Ditro C, Chidekel AS, Shaffer TH. Characteristics of impulse oscillometry and thoracoabdominal motion in children with thoracic cage disorders. Pediatr Pulmonol. 2010;45(7):679–686.
   PubMed Web of Science ®Google Scholar
• Chatuparisute P, Shinohara Y, Kirchhoff C, Fischer F, Milz S. Immunohistochemical composition of the human lunotriquetral interosseous ligament. Appl Immunohistochem Mol Morphol. 2012;20(3):318–324.
   Google Scholar
• Liu CY, Kao WW. Lumican promotes corneal epithelial wound healing. Methods Mol Biol. 2012;836:285–290.
   PubMedGoogle Scholar
• Imagama S, Sakamoto K, Tauchi R, et al. Keratan sulfate restricts neural plasticity after spinal cord injury. J Neurosci. 2011;31(47):17091–17102.
   Web of Science ®Google Scholar
• Montano AM, Tomatsu S, Gottesman GS, et al. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165–174.
   PubMed Web of Science ®Google Scholar
• Montano AM, Tomatsu S, Brusius A, et al. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10): 1286–1295.
   Google Scholar
• Glossl J, Kresse H. Impaired degradation of keratan sulfate by Morquio A fibroblasts. Biochem J. 1982;203(1):335–338.
   Web of Science ®Google Scholar
• Tomatsu S, Okamura K, Taketani T, et al. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res. 2004;55(4):592–597.
   Web of Science ®Google Scholar
• Thonar EJ, Pachman LM, Lenz ME, Hayford J, Lynch P, Kuettner KE. Age related changes in the concentration of serum keratan sulphate in children. J Clin Chem Clin Biochem. 1988;26(2):57–63.
   Google Scholar
• Brighton CT, Sugioka Y, Hunt RM. Cytoplasmic structures of epiphyseal plate chondrocytes. Quantitative evaluation using electron micrographs of rat costochondral junctions with specific reference to the fate of hypertrophic cells. JBorne Joint Surg Am. 1973;55(4):771–784.
   Web of Science ®Google Scholar
• Brighton CT, Hunt RM. Histochemical localization of calcium in the fracture callus with potassium pyroantimonate: possible role of chondrocyte mitochondrial calcium in callus calcification. J Bone Joint Surg Am. 1986;68(5):703–715.
   Google Scholar
• Mackie EJ, Ahmed YA, Tatarczuch L, Chen KS, Mirams M. Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Int JBiochem Cell Biol. 2008;40(1):46–62.
   PubMed Web of Science ®Google Scholar
• Hintze JP, Tomatsu S, Fujii T, et al. Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights. 2011;6:69–78.
   PubMedGoogle Scholar
• Tomatsu S, Dieter T, Schwartz IV, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet. 2004;49(9):490–494.
   Web of Science ®Google Scholar
• Tomatsu S, Montano AM, Oguma T, et al. Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis. Epub January 27, 2010.
   Google Scholar
• Tomatsu S, Montano AM, Ohashi A, et al. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet. 2008;17(6):815–824.
   PubMed Web of Science ®Google Scholar
• Tomatsu S, Montano AM, Dung VC, et al. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther. 2010;18(6):1094–1102.
   Web of Science ®Google Scholar
• Almeciga-Diaz CJ, Rueda-Paramo MA, Espejo AJ, et al. Effect of elongation factor 1alphapromoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase. Mol Biol Rep. 2009;36(7):1863–1870.
   Web of Science ®Google Scholar
• Brailsford JF. Chondro-osteo-dystrophy. Roentgenopgraphic and clinical features of a child with dislocation of vertebrae. Am J Sur. 1929;7:404–410.
   Google Scholar
• Pedrini V Lennzi L, Zambotti V Isolation and identification of kerato- sulphate in urine of patients affected by Morquio-Ullrich disease. Proc Soc Exp Biol Med. 1962;110:847–849.
   PubMed Web of Science ®Google Scholar
• Orii T, Minami R, Chiba G, et al. Study on Morquio syndrome. Bone metabolism. 1971;(5):72–78. Japanese.
   Google Scholar
• Orii T, Kiman T, Sukegawa K. Two brothers with the late-onset form of Nacetylgalactosamine-6-sulphate sulphatase deficiency. Connecrive Tissue. 1981;13:169–175.
   Google Scholar
• Sukegawa K, Orii T. Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency. J Inherit Metab Dis. 1982;5(4)231–232.
   PubMed Web of Science ®Google Scholar
• Hecht JT, Scott CI Jr, Smith TK, Williams JC. Mild manifestations of the Morquio syndrome. Am J Med Genet. 1984;18(2):369–371.
   Web of Science ®Google Scholar
• Masue M, Sukegawa K, Orii T, Hashimoto T. N-acetylgalactosamine- 6-sulfate sulfatase in human placenta: purification and characteristics. J Biochem. 1991;110(6):965–970.
   Web of Science ®Google Scholar
• Tomatsu S, Fukuda S, Masue M, et al. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun. 1991;181(2):677–683.
   Web of Science ®Google Scholar
• Nakashima Y, Tomatsu S, Hori T, et al. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. Genomics. 1994;20(1):99–104.
   Web of Science ®Google Scholar
• Fukuda S, Tomatsu S, Masue M, et al. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutation in classical Morquio and mild cases. J Clin Invest. 1992;90(3):1049–1053.
   Web of Science ®Google Scholar
• Tomatsu S, Fukuda S, Cooper A, et al. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. Am J Hum Genet. 1995;57(3):556–563.
   PubMed Web of Science ®Google Scholar
• Yamada N, Fukuda S, Tomatsu S, et al. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum Mutat. 1998;11(3):202–208.
   PubMed Web of Science ®Google Scholar
• Montano AM, Yamagishi A, Tomatsu S, et al. The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. Biochim Biophys Acta. 2000;1500(3):323–334.
   Web of Science ®Google Scholar
• Tomatsu S, Montano AM, Nishioka T, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005;26(6):500–512.
   Web of Science ®Google Scholar
• Tomatsu S, Montano AM, Lopez P, et al. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab. 2006;89(1–2):139–149.
   Web of Science ®Google Scholar
• Tomatsu S, Montano AM, Gutierrez M, et al. Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine- 6-sulfate sulfatase. Mol Genet Metab. 2007;91(1):69–78.
   PubMed Web of Science ®Google Scholar
• Sukegawa K, Nakamura H, Kato Z, et al. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum Mol Genet. 2000;9(9):1283–1290.
   Web of Science ®Google Scholar
• Tomatsu S, Orii KO, Vogler C, et al. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003;12(24):3349–3358.
   PubMed Web of Science ®Google Scholar
• Tomatsu S, Gutierrez M, Nishioka T, et al. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005;14(22):3321–3335.
   PubMed Web of Science ®Google Scholar
• Tomatsu S, Vogler C, Montano AM, et al. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. 2007;91(3):251–258.
   PubMed Web of Science ®Google Scholar
• De Franceschi L, Roseti L, Desando G, Facchini A, Grigolo B. A molecular and histological characterization of cartilage from patients with Morquio syndrome. Osteoarthritis Cartilage. 2007;15(11):1311–1317.
   Web of Science ®Google Scholar
• Borowski A, Thacker MM, Mackenzie WG, Littleton AG, Grissom L. The use of computed tomography to assess acetabular morphology in Morquio-Brailsford syndrome. J Pediatr Orthop. 2007;27(8):893–897.
   Web of Science ®Google Scholar
• Dhawale AA, Thacker MM, Belthur MV, Rogers K, Bober MB, Mackenzie WG. The lower extremity in Morquio syndrome. J Pediatr Orthop. 2012;32(5):534–540.
   Web of Science ®Google Scholar
• Dullenkopf A, Holzmann D, Feurer R, Gerber A, Weiss M. Tracheal intubation in children with Morquio syndrome using the angulated video-intubation laryngoscope. Can JAnaesth. 2002;49(2):198–202.
   Web of Science ®Google Scholar
• Aziz MF, Healy D, Kheterpal S, Fu RF, Dillman D, Brambrink AM. Routine clinical practice effectiveness of the Glidescope in difficult airway management: an analysis of 2,004 Glidescope intubations, complications, and failures from two institutions. Anesthesiology. 2011;114(1):34–41.
   Web of Science ®Google Scholar
• Weiss M, Hartmann K, Fischer JE, Gerber AC. Use of angulated videointubation laryngoscope in children undergoing manual in-line neck stabilization. Br J Anaesth. 2001;87(3):453–458.
   Web of Science ®Google Scholar
• Armstrong J, John J, Karsli C. A comparison between the GlideScope Video Laryngoscope and direct laryngoscope in paediatric patients with difficult airways - a pilot study. Anaesthesia. 2010;65(4):353–357.
   PubMed Web of Science ®Google Scholar
• Diaz JH, Belani KG. Perioperative management of children with mucopolysaccharidoses. Anesth Analg. 1993;77(6):1261–1270.
   Web of Science ®Google Scholar
• Buhain WJ, Rammohan G, Berger HW. Pulmonary function in Morquio’s disease: a study of two siblings. Chest. 1975;68(1):41–45.
   Web of Science ®Google Scholar
• Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Pediatr Anesth. 2012;22(9):901–907.
   Web of Science ®Google Scholar
• Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999;22(5):638–648.
   PubMed Web of Science ®Google Scholar
• Tolar J, Grewal SS, Bjoraker KJ, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008;41(6):531–535.
   PubMed Web of Science ®Google Scholar
• Khanna G, Van Heest AE, Agel J, et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant. 2007;39(6):331–334.
   Web of Science ®Google Scholar
• Tomatsu S, Montaño AM, Gutierrez M, et al. Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine- 6-sulfate sulfatase. Mol Genet Metab. 2007;91(1):69–78.
   PubMed Web of Science ®Google Scholar
• Lim-Melia ER, Kronn DF. Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Pediatr Ann. 2009;38(8):448–455.
   Web of Science ®Google Scholar
• Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344(3):182–188.
   PubMed Web of Science ®Google Scholar
• Simonaro CM, D’Angelo M, He X, et al. Mechanism ofglycosaminoglycan- mediated bone and joint disease. Am J Pathol. 2008;172:112–122.
   PubMed Web of Science ®Google Scholar
• Sekido T, Sakura N, Higashi Y, et al. Novel drug delivery system to bone using acidic oligopeptide: pharmacokinetic characteristics and pharmacological potential. J Drug Target. 2001;9(2):111–121.
   PubMed Web of Science ®Google Scholar
• Yokogawa K, Miya K, Sekido T, et al. Selective delivery of estradiol to bone by aspartic acid oligopeptide and its effects on ovariectomized mice. Endocrinology. 2001;142(3):1228–1233.
   Web of Science ®Google Scholar
• Nishioka T, Tomatsu S, Gutierrez MA, et al. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006;88(3):244–255.
   Web of Science ®Google Scholar
• Millán JL, Narisawa S, Lemire I, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res. 2008;23(6):777–787.
   Web of Science ®Google Scholar
• Gutiérrez MA, García-Vallejo F, Tomatsu S, et al. Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease. Biomedica. 2008;28(3):448–459. Spanish.
   Web of Science ®Google Scholar
• Toietta G, Severini G, Traversari C, et al. Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. Hum Gene Ther. 2001;12(16):2007–2016.
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest. 2008;118(9):3132–3142.
   PubMed Web of Science ®Google Scholar
• Alexander IE, Cunningham SC, Logan GJ, Christodoulou J. Potential of AAV vectors in the treatment of metabolic disease. Gene Ther. 2008;15(11):831–839.
   PubMed Web of Science ®Google Scholar
• Carter BJ. Adeno-associated virus vectors in clinical trials. Hum Gene Ther. 2005;16(5):541–550.
   Web of Science ®Google Scholar
• Wu Z, Asokan A, Samulski R. Adeno-associated virus serotypes: vector toolkit for human gene therapy. Mol Ther. 2006;14(3):316–327.
   PubMed Web of Science ®Google Scholar
• Papadakis ED, Nicklin SA, Baker AH, White SJ. Promoters and control elements: designing expression cassettes for gene therapy. Curr Gene Ther. 2004;4(1):89–113.
   PubMed Web of Science ®Google Scholar
• Fraldi A, Biffi A, Lombardi A, et al. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J. 2007;403(2):305–312.
   Google Scholar
• Fraldi A, Hemsley K, Crawley A, et al. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV- mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet. 2007;16(22):2693–2702.
   PubMed Web of Science ®Google Scholar
• Cheng SH, Smith AE. Gene therapy progress and prospects: gene therapy of lysosomal storage disorders. Gene Ther. 2003;10(16):1275–1281.
   PubMed Web of Science ®Google Scholar
• Loiler SA, Conlon TJ, Song S, et al. Targeting recombinant adeno- associated virus vectors to enhance gene transfer to pancreatic islets and liver. Gene Ther. 2003;10(18):1551–1558.
   Web of Science ®Google Scholar
• Wu BW, Lu J, Gallaher TK, Anderson WF, Cannon PM. Identification of regions in the Moloney murine leukemia virus SU protein that tolerate the insertion of an integrin-binding peptide. Virology. 2000;269(1):7–17.
   Web of Science ®Google Scholar
• Perabo L, Goldnau D, White K, et al. Heparan sulfate proteoglycan binding properties of adeno-associated virus retargeting mutants and consequences for their in vivo tropism. J Virol. 2006;80(14):7265–7269.
   Web of Science ®Google Scholar
• Matalon R, Arbogast B, Dorfman A. The enzymic defects in morquio and maroteaux-lamy syndrome. Biochem Biophys Res Commun. 1974;61:1450–1457.
   PubMed Web of Science ®Google Scholar
• Glossl J, Kresse H. A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio’s disease. Clin Chim Acta. 1978;88(1):111–119.
   Web of Science ®Google Scholar
• Di Ferrante N, Ginsberg LC, Donnelly PV, Di Ferrante DT, Caskey CT. Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science. 1978;199(4324)79–81.
   Web of Science ®Google Scholar
• Bielicki J, Hopwood JJ. Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization. Biochem J. 1991;279(Pt 2):515–520.
   Google Scholar
• Tomatsu S, Fukuda S, Masue M, Sukegawa K, Masuno M, Orii T. Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. Am J Hum Genet. 1992;51(Suppl 4):A178, 699.
   Google Scholar
• Oguma T, Tomatsu S, Okazaki O. Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry. Biomed Chromatogr. 2007;21(4):356–362.
   PubMed Web of Science ®Google Scholar
• Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA. Adeno- associated virus gene transfer in Morquio A disease: effect of promoters and sulfatase-modifying factor 1. FEBS J. 2010;277(17):3608–3619.
   PubMed Web of Science ®Google Scholar
• Slide 74. Educational CD for Morquio. Tucson, AZ: The Carol Ann Foundation and The International Morquio Organization; 2005.
   Google Scholar
• Slide 53. Educational CD for Morquio. Tucson, AZ: The Carol Ann Foundation and The International Morquio Organization; 2005.
   Google Scholar