The longest-surviving patient with classical maple syrup urine disease.
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.
le Roux
Carel
C
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Murphy
Elaine
E
Lilburn
Maggie
M
Lee
Philip J
PJ
D000328:Adult; D000597:Amino Acids, Branched-Chain / Q000097:blood; D019587:Dietary Supplements; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007361:Intelligence Tests; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D013997:Time Factors; D016896:Treatment Outcome
D000597:Amino Acids, Branched-Chain