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The longest‐surviving patient with classical maple syrup urine disease
Author(s) -
Roux Carel,
Murphy Elaine,
Lilburn Maggie,
Lee Philip J.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0204-4
Subject(s) - maple syrup urine disease , urine , maple , medicine , disease , pediatrics , amino acid , gastroenterology , physiology , biology , biochemistry , botany , leucine
Summary 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.