2011
DOI: 10.1007/s11011-011-9238-x
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Abstract: 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 α-keto acid dehydrogenase (BCKAD) leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine and valine and their corresponding branched-chain α-keto acids. Affected patients present severe brain dysfunction manifested such as ataxia, seizures, coma, psychomotor delay and mental retardation. The mechanisms of brai… Show more

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Cited by 59 publications
(33 citation statements)
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“…Because the metabolites accumulating in MSUD induce oxidative stress (Fontella et al 2002;Bridi et al 2003Bridi et al , 2005Mescka et al 2011), which plays a critical role in the pathophysiology of depressive disorders, we also investigated whether free-radical generation could be involved in reduction in sucrose preference and higher immobility time. Corroborating this hypothesis, antioxidant administration prevented the decreased sweet food intake, increased immobility time, and increased adrenal gland weight.…”
Section: Discussionmentioning
confidence: 99%
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“…Because the metabolites accumulating in MSUD induce oxidative stress (Fontella et al 2002;Bridi et al 2003Bridi et al , 2005Mescka et al 2011), which plays a critical role in the pathophysiology of depressive disorders, we also investigated whether free-radical generation could be involved in reduction in sucrose preference and higher immobility time. Corroborating this hypothesis, antioxidant administration prevented the decreased sweet food intake, increased immobility time, and increased adrenal gland weight.…”
Section: Discussionmentioning
confidence: 99%
“…Proposed mechanisms of neurotoxicity include energy deprivation and osmotic dysregulation (Howell and Lee 1963;Land et al 1976;Danner and Elsas 1989;Yudkoff et al 1994;Zielke et al 2002;Pilla et al 2003;Sgaravatti et al 2003;Ribeiro et al 2008) and alterations in the concentrations of the neurotransmitters glutamate, aspartate, and aminobutyric in the brain (Dodd et al 1992;Prensky and Moser 1967;Tavares et al 2000;Yudkoff et al 1994;Hutson et al 2001). The brain injury in this disorder may also be related to a reduction of brain uptake of essential amino acids (Araújo et al 2001;Wajner and Vargas 1999;Wajner et al 2000), apoptosis of neural cells (Jouvet et al 2000), oxidative stress (Bridi et al 2003(Bridi et al , 2005Fontella et al 2002;Barschak et al 2006;Mescka et al 2011), increased acetylcholinesterase activity in the brain (Scaini et al 2012), and alterations of neurotrophin levels (Scaini et al 2013a, b).…”
Section: Introductionmentioning
confidence: 99%
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“…27,28 In addition, neuroprotective and anti-oxidant effects of carnitine have been shown in various studies. [29][30][31] Our hypothesis was that individuals with FMF would have lower FC levels than their healthy age and sex matched controls due to increased need of carnitine because of recurrent auto-inflammation; however, neither carnitine deficiency nor decreased FC levels compared to the healthy controls were detected in the study.…”
Section: Discussionmentioning
confidence: 82%
“…They also report reduced amino acids methionine and tryptophan, which are amino acids with antioxidant activity. Mescka et al (2011) report protective effect of carnitine against oxidative stress induced by MSUD. Ribeiro et al (2008) report that the major metabolites accumulating in MSUD disturb brain aerobic metabolism by compromising the citric acid cycle and the electron flow through the respiratory chain.…”
Section: Review Of Literaturementioning
confidence: 95%