Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of metabolism caused by deficiency of the activity of the mitochondrial enzyme complex branched-chain alpha-keto acid dehydrogenase (BCKAD) leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine and valine and their corresponding branched-chain alpha-keto acids. Affected patients present severe brain dysfunction manifested such as ataxia, seizures, coma, psychomotor delay and mental retardation. The mechanisms of brain damage in this disease remain poorly understood.
Mescka, C., Moraes, T., Rosa, A., Mazzola, P., Piccoli, B., Jacques, C., Dalazen, G., Coelho, J., Cortes, M., Terra, M., Regla Vargas, C., & Dutra-Filho, C. (2011). In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease Metabolic Brain Disease, 26 (1), 21-28 DOI: 10.1007/s11011-011-9238-x