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Reversal of debrancher deficiency myopathy by the use of high‐protein nutrition
Author(s) -
Slonim Alfred E.,
Weisberg Charlene,
Benke Paul,
Evans Owen B.,
Burr Ian M.
Publication year - 1982
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410110417
Subject(s) - gluconeogenesis , medicine , endocrinology , ingestion , myopathy , hypoglycemia , insulin , metabolism
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.