L-alanine supplementation in late infantile glycogen storage disease type II.
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.
Bodamer
Olaf A
OA
Department of Pediatrics; University Children's Hospital, Vienna, Austria.
Haas
Dorothea
D
Hermans
Monique M
MM
Reuser
Arnold J
AJ
Hoffmann
Georg F
GF
D000284:Administration, Oral; D000409:Alanine / Q000008:administration & dosage / Q000627:therapeutic use*; D009202:Cardiomyopathies / Q000209:etiology; D019587:Dietary Supplements; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D020967:Myotonic Disorders / Q000209:etiology; D016896:Treatment Outcome
D000409:Alanine