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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acids / blood
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Blood Glucose / analysis
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Child
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Dietary Proteins / therapeutic use*
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Glycogen Storage Disease / blood
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Glycogen Storage Disease / diet therapy*
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Glycogen Storage Disease Type III / diet therapy*
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Humans
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Insulin / blood
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Male
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Neuromuscular Diseases / blood
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Neuromuscular Diseases / diet therapy*
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Neuromuscular Diseases / etiology
Substances
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Amino Acids
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Blood Glucose
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Dietary Proteins
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Insulin