Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: insight from animal studies.

In this short review we provide evidence that the branched-chain keto acids accumulating in the neurometabolic disorder maple syrup urine disease disturb rat cerebral cytoskeleton in a developmentally regulated manner. Alterations of protein phosphorylation leading to brain cytoskeletal misregulation and neural cell death caused by these metabolites are associated with energy deprivation, oxidative stress and excitotoxicity that may ultimately disrupt normal cell function and viability.