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) |
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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