Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
S Schönberger, B Schweiger, B Schwahn… - Molecular genetics and …, 2004 - Elsevier
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. Abnormalities …
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. Abnormalities …