Improvement of muscle function in acid maltase deficiency by high‐protein therapy

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Abstract
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 mo. This has reversed the weakness and wasting, with improvement in muscle function, exercise tolerance and growth.