Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.

@article{Schnberger2004DysmyelinationIT,
  title={Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.},
  author={Stefan Sch{\"o}nberger and Bernd Schweiger and Bernd C. Schwahn and Michael Schwarz and Udo Wendel},
  journal={Molecular genetics and metabolism},
  year={2004},
  volume={82 1},
  pages={69-75}
}
Maple syrup urine disease (MSUD) is associated with increased branched-chain amino acids (BCAA), their keto acids (BCKA), and acute or chronic encephalopathy. Aim of treatment is to reduce BCAA and BCKA to prevent or minimize brain dysfunction. We investigated 14 juvenile and adult patients with MSUD by means of cerebral magnetic resonance imaging (MRI) and correlated MRI changes to biochemical control measured as median plasma BCAA concentrations over 6-36 months prior to investigation… CONTINUE READING