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

Departments of Pediatries, Neurology, and Pathology (Drs. Slonim, Najjar, Mrak, Evans, Presson, and Ms. Shipp), Vanderbilt University Medical Center, Nashville, TN, the Department of Physiology (Dr. McElligot), Harvard Medical School, Boston, MA, The Department of Pediatrics (Dr. Coleman), Duke University Medical Center, Durham, NC, and the Division of Medical Genetics (Dr. Hirschhorn and Ms. Labadie), Department of Pediatries, Mount Sinai School of Medicine, New York, NY.

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.

Address correspondence and reprint requests to Dr. Slonim, Department of Pediatries, Vanderbilt University Medical Center, Nashville, TN 37232.

This work was supported hy a Clinical Research Grant from the National Foundation March of Dimes No. 6-239, NIH CRC center grants Nos. 5MOI RR-95 and RR-30, and a grant from Vanderbilt University Research Council.

Accepted for publication June 4, 1982

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