Pediatric Neurology
Volume 27, Issue 2 , Pages 145-146 , August 2002

l-alanine supplementation in late infantile glycogen storage disease type II

  • Olaf A Bodamer, MD

      Affiliations

    • Department of Pediatrics; University Children’s Hospital; Vienna, Austria
    • Corresponding Author InformationCommunications should be addressed to: Dr. Bodamer; Department of Pediatrics; University of Vienna Children’s Hospital; Währinger Gürtel 18-20; A-1090 Vienna, Austria.
    • ,
  • Dorothea Haas, MD

      Affiliations

    • Department of Pediatrics; University Children’s Hospital; Heidelberg, Federal Republic of Germany
    • ,
  • Monique M Hermans, PhD

      Affiliations

    • Department of Clinical Genetics; Erasmus University; Rotterdam, The Netherlands
    • ,
  • Arnold J Reuser, PhD

      Affiliations

    • Department of Clinical Genetics; Erasmus University; Rotterdam, The Netherlands
    • ,
  • Georg F Hoffmann, MD

      Affiliations

    • Department of Pediatrics; University Children’s Hospital; Heidelberg, Federal Republic of Germany

Received 25 September 2001 ,Accepted 7 March 2002.

References 

  1. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II (Acid α-glucosidase (acid maltase) deficiency). In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease, Volume III. 8th ed. New York: McGraw Hill; 2001;p. 3389–3420
  2. Bijvoet AG, Van Hirtum H, Kroos MA, et al.  Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. 1999;8:2145–2153
  3. Van den Hout H, Reuser AJJ, Vulto AG, Loonen MCB, Cromme-Dijkhuis A, Van der Ploeg AT. Recombinant human α-glucosidase from rabbit milk in Pompe patients. Lancet. 2000;356:397–398
  4. Demey HE, Van Meerbeeck JP, Vandewoude MF, Prove AM, Martin JJ, Bossaert LL. Respiratory insufficiency in acid maltase deficiency (The effect of high protein diet). J Parenter Enteral Nutr. 1989;13:321–323
  5. Isaacs H, Savage N, Badenhorst M, Whistler T. Acid maltase deficiency (A case study and review of the pathophysiological changes and proposed therapeutic measures). J Neurol Neurosurg Psychiatry. 1986;49:1011–1018
  6. Slonim AE, Coleman RA, McElligot MA, et al.  Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology. 1983;33:34–38
  7. Bodamer OAF, Halliday D, Leonard JV. The effects of L-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000;55:710–712
  8. Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000;137:283–285
  9. Reuser AJJ, Koster JF, Hoogeveen A, Galjaard H. Biochemical, immunological and cell genetic studies in glycogenosis type II. Am J Hum Genet. 1978;30:132–143

PII: S0887-8994(02)00413-7

Pediatric Neurology
Volume 27, Issue 2 , Pages 145-146 , August 2002

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