Bodamer Olaf A, Haas Dorothea, Hermans Monique M, Reuser Arnold J, Hoffmann Georg F
Department of Pediatrics; University Children's Hospital, Vienna, Austria.
Pediatr Neurol. 2002 Aug;27(2):145-6. doi: 10.1016/s0887-8994(02)00413-7.
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.
我们报告了一名患有晚发性婴儿型糖原贮积病II型（庞贝氏病）的男性患者，该患者在12个月大时出现肌张力减退和发育迟缓。口服L-丙氨酸已给药5年。骨骼肌病进展缓慢，心肌病几乎完全缓解。L-丙氨酸可能是II型糖原贮积病婴儿的一种有价值的补充剂。
