title: Neuropsychometric outcome predictors for adults with maple syrup urine disease.
abstract: 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.
authors.affiliation: Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: C
authors.initials: C
authors.lastname: le Roux
authors.forename: E
authors.initials: E
authors.lastname: Murphy
authors.forename: P
authors.initials: P
authors.lastname: Hallam
authors.forename: M
authors.initials: M
authors.lastname: Lilburn
authors.forename: D
authors.initials: D
authors.lastname: Orlowska
authors.forename: P
authors.initials: P
authors.lastname: Lee
mesh_terms: 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
chemical_list: D000597:Amino Acids, Branched-Chain