Feb 15, 2015

Urinary biomarkers of oxidative damage in Maple syrup urine disease: the L-carnitine role

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
Gilian GuerreiroCarmen Regla Vargas


Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids (BCAA). The defect in the branched-chain α-keto acid dehydrogenase complex activity leads to an accumulation of these compounds and their corresponding α-keto-acids and α-hydroxy-acids. Studies have shown that oxidative stress may be involved in neuropathology of MSUD. L-carnitine (L-car), which has demonstrated an important role as antioxidant by reducing and scavenging free radicals formation and by enhancing the activity of antioxidant enzymes, have been used in the treatment of some metabolic rare disorders. This study evaluated the oxidative stress parameters, di-tyrosine, isoprostanes and antioxidant capacity, in urine of MSUD patients under protein-restricted diet supplemented or not with L-car capsules at a dose of 50 mg kg(-1) day(-1). It was also determined urinary α-keto isocaproic acid levels as well as blood free L-car concentrations in blood. It was found a deficiency of carnitine in patients before the L-car supplementation. Significant increases of di-tyrosine and isoprostanes, as well as reduced antioxidant capacity, were observed before the treatment with L-car. The L-car supplementation induced beneficial effects on these parameters ...Continue Reading

Mentioned in this Paper

Biological Markers
Metabolic Process, Cellular
ARID4B wt Allele
Isocaproic acid
Keto Acids
Enzymes, antithrombotic
Maple Syrup Urine Disease

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