title: L-alanine supplementation in late infantile glycogen storage disease type II.
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.
authors.affiliation: Department of Pediatrics; University Children's Hospital, Vienna, Austria.
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Monique M
authors.initials: MM
authors.lastname: Hermans
authors.forename: Arnold J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: 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
chemical_list: D000409:Alanine