Improvement of muscle function in acid rnaltase deficiency by high-protein therapy

Alfred E. Slonim, Rosalind A. Coleman, Mary A. McElligot, Jennifer Najjar, Kurt Hirschhorn, Gundula U. Labadie, Robert Mrak, Owen B. Evans, Elizabeth Shipp, Robin Presson

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


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.

Original languageEnglish
Pages (from-to)34-38
Number of pages5
Issue number1
StatePublished - Jan 1983


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