Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.

Abstract

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.

• Authors: A E Slonim, C Weisberg, P Benke, O B Evans, I M Burr
• Journal: Annals of neurology (Ann Neurol) Vol. 11 Issue 4 Pg. 420-2 (Apr 1982) ISSN: 0364-5134 [Print] United States
• PMID: 7049057 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Amino Acids
• Blood Glucose
• Dietary Proteins
• Insulin

Topics

• Amino Acids (blood)
• Blood Glucose (analysis)
• Child
• Dietary Proteins (therapeutic use)
• Glycogen Storage Disease (blood, diet therapy)
• Glycogen Storage Disease Type III (diet therapy)
• Humans
• Insulin (blood)
• Male
• Neuromuscular Diseases (blood, diet therapy, etiology)