Neuropsychometric outcome predictors for adults with maple syrup urine disease

C le Roux; E Murphy; P Hallam; M Lilburn; D Orlowska; P Lee

doi:10.1007/s10545-006-0223-1

Neuropsychometric outcome predictors for adults with maple syrup urine disease

J Inherit Metab Dis. 2006 Feb;29(1):201-2. doi: 10.1007/s10545-006-0223-1.

Authors

C le Roux¹, E Murphy, P Hallam, M Lilburn, D Orlowska, P Lee

Affiliation

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

PMID: 16601892
DOI: 10.1007/s10545-006-0223-1

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.

MeSH terms

Adolescent
Adult
Age of Onset
Amino Acids, Branched-Chain / blood
Female
Humans
Intelligence Tests
Male
Maple Syrup Urine Disease / diagnosis*
Maple Syrup Urine Disease / physiopathology*
Neuropsychological Tests
Treatment Outcome

Substances

Amino Acids, Branched-Chain