Brain and Development
Volume 34, Issue 2 , Pages 98-102 , February 2012

Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

  • Keiko Ishigaki

      Affiliations

    • Department of Pediatrics, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan
    • Corresponding Author InformationCorresponding author. Address: Department of Pediatrics, Tokyo Women’s Medical University, School of Medicine, 8-1 Kawadacho, Shinjuku-ku, Tokyo 162-8666, Japan. Tel.: +81 3 3353 8111; fax: +81 3 5269 7338.
    • ,
  • Terumi Murakami

      Affiliations

    • Department of Pediatrics, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan
    • ,
  • Toshio Nakanishi

      Affiliations

    • Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan
    • ,
  • Eri Oda

      Affiliations

    • Department of Pediatrics, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan
    • ,
  • Takatoshi Sato

      Affiliations

    • Department of Pediatrics, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan
    • ,
  • Makiko Osawa

      Affiliations

    • Department of Pediatrics, Heart Institute of Japan, Tokyo Women’s Medical University, School of Medicine, Tokyo, Japan

Received 12 April 2010 ,Revised 29 April 2011 ,Accepted 2 May 2011.

References 

  1. Engel AG, Hiyrschhorn R, Huie ML. Acid maltase deficiency. In:  Engel A,  Franzini-Armstrong C editor. Myology. New York: McGraw-Hill; 2003;p. 1559–1586
  2. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J. Neurol. 2005;252:875–884
  3. Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008;38:1236–1245
  4. Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008;5:569–578
  5. Beck M. Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther. Clin. Risk Manag. 2009;5:767–772
  6. Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet. Med. 2001;3:132–138
  7. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109
  8. Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, et al. Enzyme replacement therapy in late-onset Pompe’s disease: a three-year follow-up. Ann. Neurol. 2004;55:495–502
  9. van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul. Disord. 2008;18:447–452
  10. Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J. Neurol. 2010;257:91–97
  11. doi: http://www.mext.go.jp/component/b_menu/houdou/__icsFiles/afieldfile/2009/10/13/1285568_1.pdf (Ministry of education, culture, sports, science and technology-Japan, Motor fitness of students in 2009, in Japanese) (accessed, April 1, 2011).
  12. Geiger R, Strasak A, Treml B, Gasser K, Kleinsasser A, Fischer V, et al. Six-minute walk test in children and adolescents. J. Pediatr. 2007;150:395–399
  13. Beenakker EA, Maurits NM, Fock JM, Brouwer OF, van der Hoeven JH. Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients. Eur. J. Paediatr. Neurol. 2005;9:387–393
  14. Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, et al. High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. Acta Neuropathol. 2010;120:537–543
  15. Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol. Genet. Metab. 2010;101:130–133

PII: S0387-7604(11)00138-0

doi: 10.1016/j.braindev.2011.05.004

Brain and Development
Volume 34, Issue 2 , Pages 98-102 , February 2012

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