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J Inherit Metab Dis. 2006 Feb;29(1):201-2.

Neuropsychometric outcome predictors for adults with maple syrup urine disease.

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  • 1Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.


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.

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