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L-alanine supplementation in late infantile glycogen storage disease type II
Olaf A Bodamer1, Dorothea Haas, Monique M Hermans
1Department of Pediatrics; University Children's Hospital, Vienna, Austria.
Pediatric Neurology
|September 6, 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.