Bone Marrow Transplantation for Metabolic Diseases

  • Robertson Parkman
  • Gay Crooks
  • Donald B. Kohn
  • Carl Lenarsky
  • Kenneth Weinberg
Part of the Cancer Treatment and Research book series (CTAR, volume 76)


Metabolic diseases that have been treated by bone marrow transplantation (BMT) can be divided into three groups: (1) group I, those diseases in which the clinical symptomatology is restricted to cells of the lymphohematopoietic system, (2) group II, those diseases in which nonlymphohematopoietic cells are clinically affected but the central nervous system (CNS) is not affected, and (3) group III, those diseases in which the CNS is affected (Table 1). Group I diseases are all correctable by BMT, group II diseases may be correctable depending upon the biology of the primary disease, and group III diseases are still the center of controversy.


Bone Marrow Transplantation Enzyme Replacement Therapy Gauche Disease Acute GVHD Central Nervous System Involvement 
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  1. 1.
    Giblett ER, Anderson JE, Cohen F, Pollack MS, Cunningham-Rundles S, Dupont B, Hodes MZ, Good RA, O’Reilly RJ: Adenosine deaminase deficiency in 2 patients with severely impaired cellular immunity. Lancet 2:113–125, 1972.Google Scholar
  2. 2.
    Parkman R, Gelfand EW, Rosen FS, Sanderson A, Hirschhorn R: Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med 291:714–719, 1975.CrossRefGoogle Scholar
  3. 3.
    Hirschhorn R, Roegner-Maniscalco V, Kuritsky L, Rosen FS: Bone marrow transplantation only partially restores purine metabolites to normal in ADA deficient patients. J Clin Invest 68:1387–1393, 1981.PubMedCrossRefGoogle Scholar
  4. 4.
    Stewart FM, Crittenden RB, Lowry PA, Pearson-White S, Quesenberry PJ: Long-term engraftment of normal and post-5-fluorouracil murine marrow into normal nonmyeloablated mice. Blood 81:2566–2571, 1993.PubMedGoogle Scholar
  5. 5.
    Reisner Y, Kapoor N, Kirkpatrick D, et al.: Transplantation for severe combined immunodeficiency with HLA-A, B, D, Dr incompatible parental marrow fractionated by soybean agglutinin and sheep red blood cells. Blood 61:341–348, 1983.PubMedGoogle Scholar
  6. 6.
    Reinherz E, Geha R, Rappeport JM, Wilson M, Penta AC, Hussey RE, Fitzgerald KA, Daley JF, Levine H, Rosen FS, Schlossman SF: Reconstitution after transplantation with T-lymphocyte-depleted HLA haplotype-mismatched bone marrow for severe combined immunodeficiency. Proc Natl Acad Sci USA 79:6047–6051, 1982.PubMedCrossRefGoogle Scholar
  7. 7.
    O’Reilly RJ, Keever CA, Small TN, Brochstein J: The use of HLA-non-identical T cell depleted marrow transplants for correction of severe combined immunodeficiency disease. Immunodefic Rev 1:273–309, 1989.PubMedGoogle Scholar
  8. 8.
    Cudkowicz G, Bennett M: Peculiar immunobiology of bone marrow allografts. II. Rejection of parental grafts by resistant F1 hybrid mice. J Exp Med 134:1513–1528, 1971.PubMedCrossRefGoogle Scholar
  9. 9.
    Rappeport JM, Gins EI: Bone marrow transplantation in severe Gaucher’s disease. N Engl J Med 311:84–88, 1984.PubMedCrossRefGoogle Scholar
  10. 10.
    Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al.: Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebosidase for Gaucher’s disease. N Engl J Med 324:1464–1470, 1991.PubMedCrossRefGoogle Scholar
  11. 11.
    Nolta JA, Yu XJ, Bahner I, Kohn DB: Retroviral-meditated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow. J Clin Inves 90:342–348, 1992.CrossRefGoogle Scholar
  12. 12.
    Miller AD: Human gene therapy comes of age. Nature 357:455–460, 1992.PubMedCrossRefGoogle Scholar
  13. 13.
    Coccia PF, Krivit W, Cervenka J, Clawson C, Kersey JH, Kim TH, Nesbit ME, Ramsay NK, Warkentin PI, Teitelbaum SL, Kahn AJ, Brown DM: Successful bone marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 302:701–708, 1980.PubMedCrossRefGoogle Scholar
  14. 14.
    Kodoma H, Nose M, Niida S, Yamasaki A: Essential role of macrophage colony-stimulating factor in the osteoclast differentiation supported by stromal cells. J Exp Med 173:1291–1294, 1991.CrossRefGoogle Scholar
  15. 15.
    Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, Weisdorfs, Sibley R, Snover D, McGovern MM, et al.: Bone marrow transplantation in the Maroteaux-Lamysyndrome (mucopolysaccharidosis type VI). N Eng J Med 311:1606–1611, 1984.CrossRefGoogle Scholar
  16. 16.
    Goldfinch ME, Pearson AD: Bone marrow transplantation for glycogen storage disease type II (Pompe’s disease). N Eng J Med 314:385, 1986.Google Scholar
  17. 17.
    Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K, James DC, Lucas CF, Rogers TR, Benson PF, Tansley LR, Patrick AD, Mossman J, Young EP: Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation. Lancet 2:709–712, 1981.PubMedCrossRefGoogle Scholar
  18. 18.
    Krivit W, Shapiro EG: Bone marrow transplantation for storage diseases. In Forman SJ, Blume KG, Thomas ED (eds): Bone Marrow Transplantation. Oxford: Blackwell Scientific 1994, pp 883–893.Google Scholar
  19. 19.
    Krall WJ, Challita PM, Perlmutter L, Skelton D, Kohn DB: Cells expressing human glucocerebrosidase from a retroviral vector repopulate tissue macrophages and the CNS microglia after bone marrow transplantation. Blood 83:2737–2748, 1994.PubMedGoogle Scholar
  20. 20.
    Ciocci GH, Downey JH, Pettigrew AL, Miara C, Morrow J: Update on outcome following allogeneic bone marrow transplant for patients with Hurlers syndrome using alternative marrow donors. J Cell Biochem Suppl 16:212, 1992.Google Scholar
  21. 21.
    Krivit W, Shapiro EG: BMT for storage diseases. In Desnick RJ (ed): Treatment of Genetic Diseases. New York: Churchill-Livingston, 1991, pp 203–221.Google Scholar
  22. 22.
    Bordignoni P, Vidaihet M, Lena M, Maire I, Gelot S: BMT for Sanfilippo syndrome. In Hobbs JR (ed): Cogenti. London: Westminister Medical School Trust, 1989, pp 114–119.Google Scholar
  23. 23.
    Moser HW, Moser AB, Smith KD, Bergin A, Borei J, Shankroff J, Stine OC, Merette C, Ott J, Krivit W, et al.: Adrenoleukodystrophy: Phenotypic variability: Implications for therapy. J Inherit Metab Dis 15:645–664, 1992.PubMedCrossRefGoogle Scholar
  24. 24.
    Aubourg P, Blanche S, Jambaque I, Rocchioccioli F, Kalifa G, Naud-Saudreau C, Rolland MO, Debre MO, Chaussain JL, Griscelli C, et al.: Reversal of early neurologic and neuro-radiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322:1860–1866, 1990.PubMedCrossRefGoogle Scholar
  25. 25.
    Moser HW, Tutschka PJ, Brown FR III, Moser AE, Yeager AM, Singh I, Mark SA, Kumar AA, McDonnell JM, White CI III, et al.: Bone marrow transplant in adrenoleuko-dystrophy. Neurology 34:1410–1417, 1984.PubMedCrossRefGoogle Scholar
  26. 26.
    Ullrich R, Mersmann G, Weber E, von Figura K: Evidence for lysosomal enzyme recognition by human fibroblasts via a phosphorylated carbohydrate moiety. Biochem J 170:643, 1979.Google Scholar
  27. 27.
    Krivit W, Shapiro E, Kennedy W, Lipton M, Lockman L, Smith S, Summers CG, Wenger DA, Tsai MY, Ramsay NK, et al.: Treatment of late infantile metachromatic leuko-dystrophy by bone marrow transplantation. N Engl J Med 311:28–32, 1990.CrossRefGoogle Scholar
  28. 28.
    Bayerer E, Ladisch S, Phillipart M, Brill N, Nuwer M, Sparkes RS, Feig SA: Bone marrow transplantation for metachromatic leukodystrophy. Lancet 2:472–473, 1985.Google Scholar
  29. 29.
    Ringden O, Groth CG, Erikson A, Mansson EE, Svennerholm L: BMT in the Nor-robottnian type of Gaucher disease. Acta Pediatr Scand 79:680–685, 1990.CrossRefGoogle Scholar
  30. 30.
    Bayever E, August CS, Jamani N, Ferreira P, Wenger D, Krivit W: Allogeneic bone marrow transplantation for Niemann-Pick disease (type IA). Bone Marrow Transplant 10(Suppl 1):85–86, 1992.PubMedGoogle Scholar
  31. 31.
    Krivit W, Freese D, Chan KW, Kulkarni R: Wolman’s disease: A review of treatment with bone marrow transplantation and considerations for the future. Bone Marrow Transplant 10(Suppl 1):97–101, 1992.PubMedGoogle Scholar
  32. 32.
    Kolodny EH, Raghavan S, Krivit W: Late-onset Krabbe disease (globoid cell leukodystrophy) and clinical and biochemical features of 15 cases. Deve Neurosci 13:232–239, 1991.CrossRefGoogle Scholar
  33. 33.
    Nyhan WL, Page T, Truber AB, et al.: Bone marrow transplantation in Lesch-Nyhan disease. In Krivit W, Paul NW (eds): Bone Marrow Transplantation for Treatment of Lysosomal Storage Disorders. New York: Alan R. Liss, 1986, pp 41–53.Google Scholar

Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • Robertson Parkman
  • Gay Crooks
  • Donald B. Kohn
  • Carl Lenarsky
  • Kenneth Weinberg

There are no affiliations available

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