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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 145-146 |
| Number of pages | 2 |
| Journal | Pediatric Neurology |
| Volume | 27 |
| Issue number | 2 |
| DOIs | |
| State | Published - Aug 2002 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology
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Bodamer, O. A., Haas, D., Hermans, M. M., Reuser, A. J., & Hoffmann, G. F. (2002). L-alanine supplementation in late infantile glycogen storage disease type II. Pediatric Neurology, 27(2), 145-146. https://doi.org/10.1016/S0887-8994(02)00413-7