Improvement of muscle function in acid maltase deficiency by high-protein therapy.
Progressive muscle weakness in acid maltase deficiency (AMD) is associated with intralysosomal accumulation of glycogen and altered myofibrillar morphology. A rapid fall in circulating branched chain amino acids after protein ingestion in a child with AMD suggested that increased net muscle protein catabolism may play a part in the pathogenesis of this condition. To reduce this muscle catabolism, the patient was treated with a high-protein diet for 12 months. This has reversed the weakness and wasting, with improvement in muscle function, exercise tolerance, and growth.
D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage*; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000178:diet therapy
D000597:Amino Acids, Branched-Chain; D004044:Dietary Proteins; D006003:Glycogen; D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase