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J Inherit Metab Dis. 2006 Feb;29(1):190-4.

The longest-surviving patient with classical maple syrup urine disease.

Author information

1
Charles 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.

PMID:
16601890
DOI:
10.1007/s10545-006-0204-4
[Indexed for MEDLINE]

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