Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.
A child with debrancher deficiency presented with myopathy, recurrent hypoglycemia, and growth failure. Evidence for enhanced gluconeogenesis was demonstrated by low postabsorptive gluconeogenic plasma amino acids, a marked fall in alanine during fasting, and a substantial rise in plasma glucose following protein ingestion. The patient was treated with high-protein nocturnal intragastric therapy, which resulted in marked improvement in exercise tolerance, muscle strength and mass, electromyographic findings, and growth.
D000596:Amino Acids / Q000097:blood; D001786:Blood Glucose / Q000032:analysis; D002648:Child; D004044:Dietary Proteins / Q000627:therapeutic use*; D006008:Glycogen Storage Disease / Q000097:blood / Q000178:diet therapy*; D006010:Glycogen Storage Disease Type III / Q000178:diet therapy*; D006801:Humans; D007328:Insulin / Q000097:blood; D008297:Male; D009468:Neuromuscular Diseases / Q000097:blood / Q000178:diet therapy* / Q000209:etiology
D000596:Amino Acids; D001786:Blood Glucose; D004044:Dietary Proteins; D007328:Insulin