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Lysosomal Storage Disorders

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Lysosomes

Part of the book series: Medical Intelligence Unit ((MIUN))

Abstract

The lysosomal storage disorders (LSD) are a group of about 50 diseases that are characterised by an accumulation of waste products in the lysosomes, resulting in the formation of large intracellular vacuoles (Fig. 1).

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References

  1. De Duve C. Lysosomes, a new group of cytoplasmic particles. In: Hayashi T, ed. Subcellular Particles. Ronald Press, 1959:128–159.

    Google Scholar 

  2. Meikle PJ, Hopwood JJ, Clague AE et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281(3):249–54.

    Article  PubMed  CAS  Google Scholar 

  3. Poorthuis BJ, Wevers RA, Kleijer WJ et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Gen 1999; 105:151–156.

    CAS  Google Scholar 

  4. Raychowdhury MK, Gonzalez-Perrett S, Montalbetti N et al. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. Hum Mol Genet 2004; 13(6):617–27.

    Article  PubMed  CAS  Google Scholar 

  5. Masson C, Cisse I, Simon V et al. Fabry disease: A review. Joint Bone Spine 2004; 71(5):381–3.

    Article  PubMed  Google Scholar 

  6. Hopwood JJ, Bunge S, Morris CP et al. Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993; 2(6):435–42.

    Article  PubMed  CAS  Google Scholar 

  7. Nishino I, Fu J, Tanji K et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406(6798):906–10.

    Article  PubMed  CAS  Google Scholar 

  8. Ikonen E, Peltonen L. Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Hum Mutat 1992:1(5):361–5.

    Article  PubMed  CAS  Google Scholar 

  9. Varho TT, Alajoki LE, Posti KM et al. Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatr Neurol 2002; 26(4):267–73.

    Article  PubMed  Google Scholar 

  10. Horowitz M, Pasmanik-Chor M, Borochowitz Z et al. Prevalence of glucocerebrosidase mutations in the israeli ashkenazi Jewish population. Hum Mutat 1998; 12(4):240–4.

    Article  PubMed  CAS  Google Scholar 

  11. Myerowitz R. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Hum Mutat 1997; 9(3):195–208.

    Article  PubMed  CAS  Google Scholar 

  12. Beutler E, Grabowski GA. Gaucher disease. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3635–3668.

    Google Scholar 

  13. Gravel RA, Kaback MM, Proia RL et al. The GM2 Ganglisiodosis. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3827–3876.

    Google Scholar 

  14. Hirshhorn R, Reuser A. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3389–3420.

    Google Scholar 

  15. Beta-galactosidase deficiency (beta-galactosidosis). In: Suzuki Y, Oshima A, Nanba E, Schriver CR, Beaudet AL, Sly WS, Valle D, eds. GM1 gangliosidosis and Morquio B disease. 2001:3775–3809.

    Google Scholar 

  16. Patterson JS, Jones MZ, Lovell KL et al. Neuropathology of bovine beta-mannosidosis. J Neuropathol Exp Neurol 1991; 50(5):538–46.

    Article  PubMed  CAS  Google Scholar 

  17. Boyer PJ, Jones MZ, Rathke EJ et al. Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. J Neurochem 1990; 55(2):660–4.

    Article  PubMed  CAS  Google Scholar 

  18. Bedilu R, Nummy KA, Cooper A et al. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab 2002; 77(4):282–90.

    Article  PubMed  CAS  Google Scholar 

  19. Bijsterbosch MK, Donker W, van de Bilt H et al. Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells. Eur J Biochem 1996; 237(2):344–9.

    Article  PubMed  CAS  Google Scholar 

  20. Zhu Y, Li X, Kyazike J et al. Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in Pompe mice. J Biol Chem 2004, [Epub ahead of print].

    Google Scholar 

  21. Whittington R, Goa KL. Alglucerase. A review of its therapeutic use in Gaucher’s disease. Drugs 1992; 44(1):72–93.

    Article  PubMed  CAS  Google Scholar 

  22. Grabowski GA, Barton NW, Pastores G et al. Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995; 122:33–39.

    PubMed  CAS  Google Scholar 

  23. Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry’s disease: Recent advances and clinical applications. J Nephrol 2004; 17(3):354–63.

    PubMed  CAS  Google Scholar 

  24. Wraith JE, Clarke LA, Beck M et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144(5):581–8.

    Article  PubMed  CAS  Google Scholar 

  25. Van den Hout JM, Kamphoven JH, Winkel LP et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004; 113(5):e448–57.

    Article  PubMed  Google Scholar 

  26. Lachmann RH. alpha-glucosidase (CHO) (Genzyme). Curr Opin Investig Drugs 2004; 5(10):1101–10.

    PubMed  CAS  Google Scholar 

  27. Muenzer J, Lamsa JC, Garcia A et al. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report. Acta Paediatr Suppl 2002; 91(439):98–9.

    Article  PubMed  CAS  Google Scholar 

  28. Harmatz P, Whitley CB, Waber L et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004; 144(5):574–80.

    Article  PubMed  CAS  Google Scholar 

  29. Bae JS, Jang KH, Schuchman TR et al. Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. Exp Anim 2004; 53(5):417–21.

    Article  PubMed  CAS  Google Scholar 

  30. Roces DP, Lullmann-Rauch R, Peng J et al. Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: A preclinical animal study. Hum Mol Genet 2004; 13(18):1979–88.

    Article  PubMed  CAS  Google Scholar 

  31. Hoogerbrugge PM, Brouwer OF, Bordigoni P et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 1995; 345(8962):1398–402.

    Article  PubMed  CAS  Google Scholar 

  32. Zheng Y, Rozengurt N, Ryazantsev S et al. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Mol Genet Metab 2003; 79(4):233–44.

    Article  PubMed  CAS  Google Scholar 

  33. Barranger JM, Novelli EA. Gene therapy for lysosomal storage disorders. Expert Opin Biol Ther 2001; 1(5):857–67.

    Article  PubMed  CAS  Google Scholar 

  34. Mandel RJ, Burger C. Clinical trials in neurological disorders using AAV vectors: Promises and challenges. Curr Opin Mol Ther 2004; 6(5):482–90.

    PubMed  CAS  Google Scholar 

  35. Elstein D, Hollak C, Aerts JM et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004; 27(6):757–66.

    Article  PubMed  CAS  Google Scholar 

  36. Meikle PJ, Ranieri E, Simonsen H et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004; 114(4):909–16.

    Article  PubMed  Google Scholar 

  37. Aronson NN, Kuranda MJ. Lysosomal degradation of Asn-linked glycoproteins. FASEB J 1989; 3:2615–2622.

    PubMed  CAS  Google Scholar 

  38. Thomas G. Disorders of glycoprotein degradation: alpha-mannosidosis, beta-Mannosidosis, Fucosidosis and Sialidosis. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3507–3534.

    Google Scholar 

  39. Desnick RJ, Schindler L. Alpha-N-acetylgalactosaminidase deficiency: Schindler disease. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3483–3506.

    Google Scholar 

  40. Sakuraba H, Matsuzawa F, Aikawa S et al. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet 2004; 49:1–8.

    Article  PubMed  CAS  Google Scholar 

  41. d’Azzo A, Andria G, Strisiugli P et al. Galactosialidosis. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001; 3811–3826.

    Google Scholar 

  42. Aula P, Jalanko A, Peltonen L. Aspartylglucosaminuria. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3535–3550.

    Google Scholar 

  43. von Figura K, Gieselman V, Jaeken J. Metachromatic leukodystrophy. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3695–3724.

    Google Scholar 

  44. Sonnino S, Chigorno V. Ganglioside molecular species containing C18-and C20-sphingosine in mammalian nervous tissues and neuronal cell cultures. Biochim Biophys Acta 2000; 1469:63–77.

    PubMed  CAS  Google Scholar 

  45. Coetzee T, Suzuki K, Popko B. New perspectives on the function of myelin galactolipids. Trends Neurosci 1998; 21:126–130.

    Article  PubMed  CAS  Google Scholar 

  46. Desnick RJ, Ioannou YA, Eng CM. alpha-Galactosidase A deficiency; Fabry Disease. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3507–3534.

    Google Scholar 

  47. Wenger DA, Suzuki K, Suzuki Y et al. Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease). In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3669–3694.

    Google Scholar 

  48. Dierks T, Schmidt B, Borissenko LV et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 2003; 113(4):435–44.

    Article  PubMed  CAS  Google Scholar 

  49. Neufeld E, Muenzer J. The Mucopolysaccharidoses. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3669–3694.

    Google Scholar 

  50. Schuchman EH, Desnick RJ. Niemann-Pick Disease Types A and B: Acid sphingomyelinase Deficiencies. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3589–3610.

    Google Scholar 

  51. Moser HW, Linke T, Fensom AH et al. Acid ceramidase deficiency: Farber lipogranulomatosis. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3573–3588.

    Google Scholar 

  52. Assmann G, Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3551–3572.

    Google Scholar 

  53. Gelb BD, Bromme D, Desnick RJ. Pycnodysostosis: Cathepsin K deficiency In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3453–3468.

    Google Scholar 

  54. Hofmann SJ, Peltonen L. The neuronal ceroid lipofuscinoses. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3877–3896.

    Google Scholar 

  55. Kopan S, Sivasubramaniam U, Warburton MJ. The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: Evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis. Biochem Biophys Res Commun 2004; 319(1):58–65.

    Article  PubMed  CAS  Google Scholar 

  56. Kloetzel PM, Ossendorp F. Proteasome and peptidase function in MHC-class-I-mediated antigen presentation. Curr Opin Immunol 2004; 16(1):76–81.

    Article  PubMed  CAS  Google Scholar 

  57. Aula P, Gahl WA. Disorders of free sialic acid storage. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:5109–5120.

    Google Scholar 

  58. Gahl WA, Thoene JG, Schneider JA. Cystinosis: A disorder of lysosomal memmbrane transport. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:5085–5108.

    Google Scholar 

  59. Raas-Rothschild A, Cormier-Daire V, Bao M et al. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 2000; 105(5):673–81.

    Article  PubMed  CAS  Google Scholar 

  60. Kornfeld S, Sly WS. I-Cell Disease and pseudo-hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Meta-bolic and Molecular Bases of Inherited Disease. 2001:3469–3482.

    Google Scholar 

  61. Bach G. Mucolipidosis type IV. Mol Genet Metab 2001:73(3):197–203.

    Article  PubMed  CAS  Google Scholar 

  62. Nishino I. Autophagic vacuolar myopathies. Curr Neurol Neurosci Rep 2003; 3(1):64–9.

    Article  PubMed  Google Scholar 

  63. Nishino I, Fu J, Tanji K et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406(6798):906–10.

    Article  PubMed  CAS  Google Scholar 

  64. Eskelinen EL, Tanaka Y, Saftig P. At the acidic edge: Emerging functions for lysosomal membrane proteins. Trends Cell Biol 2003; 13(3):137–45.

    Article  PubMed  CAS  Google Scholar 

  65. Patterson MC, Vanier MT, Suzuki K et al. Niemann-pick disease type c: A lipid trafficking disorder. In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3611–3634.

    Google Scholar 

  66. Sturley SL, Patterson MC, Balch W et al. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta 2004; 1685(1–3):83–7.

    PubMed  CAS  Google Scholar 

  67. Hofman SL, Peltonen L. The neuronal ceroid lipofuscinoses In: Schriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease. 2001:3877–3896.

    Google Scholar 

  68. Luiro K, Yliannala K, Ahtiainen L et al. Interconnections of CLN3, Hookl and Rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet 2004; 13(23):3017–27.

    Article  PubMed  CAS  Google Scholar 

  69. Mole SE, Michaux G, Codlin S et al. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res 2004; 298(2):399–406.

    Article  PubMed  CAS  Google Scholar 

  70. Winter E, Ponting CP. TRAM, LAG1 and CLN8: Members of a novel family of lipid-sensing domains? Trends Biochem Sci 2004; 27(8):381–3.

    Article  Google Scholar 

  71. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: The secrets of secretory lysosomes. Science 2004; 305(5680):55–9.

    Article  PubMed  CAS  Google Scholar 

  72. Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes. Curr Mol Med 2002; 2(5):451–67.

    Article  PubMed  CAS  Google Scholar 

  73. Triggs-Raine B, Salo TJ, Zhang H et al. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci 1999; 96:6296–300.

    Article  PubMed  CAS  Google Scholar 

  74. Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet 2004; 131C(1):75–81.

    Article  Google Scholar 

  75. Clark RH, Stinchcombe JC, Day A et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 2003; 4(11):1111–20, Epub 2003.

    Article  PubMed  CAS  Google Scholar 

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Greiner-Tollersrud, O.K., Berg, T. (2005). Lysosomal Storage Disorders. In: Lysosomes. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-28957-7_6

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