Neuropsychometric outcome predictors for adults with maple syrup urine disease.
We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long-term blood leucine does not correlate with IQ.
le Roux
C
C
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Murphy
E
E
Hallam
P
P
Lilburn
M
M
Orlowska
D
D
Lee
P
P
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000597:Amino Acids, Branched-Chain / Q000097:blood; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000503:physiopathology*; D009483:Neuropsychological Tests; D016896:Treatment Outcome
D000597:Amino Acids, Branched-Chain