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Characterization of Metabolic Status in Nonhuman Primates with the Intravenous Glucose Tolerance Test
Published on: November 13, 2016
The longest-surviving patient with classical maple syrup urine disease
Carel le Roux1, Elaine Murphy, Maggie Lilburn
1Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Abstract:
The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Changes in dietary supplementation have benefited her in terms of nutrition and quality of life. Consistently high blood concentrations of branched-chain amino acids have not been associated with neuropsychometric decline.
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