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.

Abstract 

We report a male with late infantile glycogen storage disease type II (Pompe’s disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with l-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. l-alanine may be a valuable supplement for infants with glycogen storage disease type II.

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 31.50 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Subscribe to this title

    Get unlimited online access to this article and all other articles in this title 24/7 for one year.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.
 

PII: S0887-8994(02)00413-7

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

Article Tools