Journal of the Chinese Medical Association
Volume 69, Issue 5 , Pages 228-232 , May 2006

Enzyme Replacement Therapy with Imiglucerase in a Taiwanese Child with Type 1 Gaucher Disease

  • Hsiang-Yu Lin

      Affiliations

    • Department of Pediatrics, Taipei, Taiwan, R.O.C.
    • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Taipei, Taiwan, R.O.C.
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • Department of Mackay Medicine, Nursing and Management College, Taipei, Taiwan, R.O.C.
    • Department of Clinical Pathology, Taipei Institute of Pathology, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr. Shuan-Pei Lin, Department of Pediatrics, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan, R.O.C.
    • ,
  • Chih-Kuang Chuang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • Medical College, Fu-Jen Catholic University, Taipei, Taiwan, R.O.C.
    • ,
  • James Edmond Wraith

      Affiliations

    • Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Manchester, United Kingdom

Received 26 July 2005 ,Accepted 20 December 2005.

References 

  1. Brady RO , Kanfer JN , Shapiro D . Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher disease . Biochem Biophys Res Commun . 1965;18:221–225
  2. Beutler E . Gaucher's disease . N Engl J Med. . 1991;325:1354–1360
  3. Grabowski GA . Gaucher disease enzymology, genetics and treatment . In:  Harris H ,  Hirschhorn K editor. Advances in Human Genetics . vol. 21: New York: Plenum Press; 1993;p. 377–441
  4. Zimran A, Elstein D, Levy-Lahad E, Zevin S, Hadas-Halpern I, Bar-Ziv Y, et al. Replacement therapy with imiglucerase for type 1 Gaucher's disease . Lancet . 1995;345:1479–1480
  5. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al  Effectiveness of enzyme replacement therapy in 1,028 patients with Type 1 Gaucher disease after 2-5 years of treatment: a report from the Gaucher registry . Am J Med. . 2002;113:112–119
  6. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al  Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease . N Engl J Med. . 1991;324:1464–1470
  7. Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, et al  Enzyme replacement therapy for Gaucher disease: skeletal response to macrophage-targeted glucocerebrosidase . Pediatrics . 1995;96:629–637
  8. Tsai FJ, Lee CC, Wu MC, Lin SP, Lin CY, Tsai CH, et al  Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations . Acta Paediatr Taiwan . 2001;42:231–235
  9. Czartoryska B , Tylki-Szymanska A , Gorska D . Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT) . Clin Biochem . 1998;31:417–420
  10. Hsu CC , Chien YH , Lai MY , Hwu WL . Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease . J Formos Med Assoc . 2002;101:627–631
  11. Verderese CL , Graham OC , Holder-McShane CA , Harnett NE , Barton NW . Gaucher disease: a pilot study of the symptomatic responses to enzyme replacement therapy . J Neurosci Nurs . 1993;25:296–301
  12. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al  The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease . Arch Intern Med. . 2000;160:2835–2843
  13. Kaplan P, Mazur A, Manor O, Charrow J, Esplin J, Gribble TJ, et al  Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase . J Pediatr . 1996;129:149–153
  14. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al  Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations . J Pediatr . 2004;144:112–120
  15. Deegan PB , Cox TM . Clinical evaluation of biomarkers in Gaucher disease . Acta Paediatr Suppl . 2005;94:47–50

PII: S1726-4901(09)70224-2

doi: 10.1016/S1726-4901(09)70224-2

Journal of the Chinese Medical Association
Volume 69, Issue 5 , Pages 228-232 , May 2006

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