Investigation of inflammatory profile in MSUD pati

Authors: Caroline Paula Mescka Gilian Guerreiro Bruna Donida Desirèe Marchetti Carlos Alberto Yasin Wayhs Graziela Schimitt Ribas Adriana Simon Coitinho Moacir Wajner Carlos Severo DutraFilho Carmen Regla Vargas

Publish Date: 2015/05/24

Volume: 30, Issue: 5, Pages: 1167-1174

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Abstract

Maple Syrup Urine Disease MSUD is a metabolic disorder caused by a severe deficiency of the branchedchain αketo acid dehydrogenase complex activity which leads to the accumulation of branchedchain amino acids BCAA leucine Leu isoleucine and valine and their respective αketoacids in body fluids The main symptomatology presented by MSUD patients includes ketoacidosis failure to thrive poor feeding apnea ataxia seizures coma psychomotor delay and mental retardation but the neurological pathophysiologic mechanisms are poorly understood The treatment consists of a low protein diet and a semisynthetic formula restricted in BCAA and supplemented with essential amino acids It was verified that MSUD patients present Lcarnitine Lcar deficiency and this compound has demonstrated an antioxidant and antiinflammatory role in metabolic diseases Since there are no studies in the literature reporting the inflammatory profile of MSUD patients and the Lcar role on the inflammatory response in this disorder the present study evaluates the effect of Lcar supplementation on plasma inflammatory cytokines interleukin1β IL1β interleukin6 IL6 interferongamma INFɣ and a correlation with malondialdehyde MDA as a marker of oxidative damage and with free Lcar plasma levels in treated MSUD patients Significant increases of IL1β IL6 and INFɣ were observed before the treatment with Lcar Moreover there is a negative correlation between all cytokines tested and Lcar concentrations and a positive correlation among the MDA content and IL1β and IL6 values Our data show that Lcar supplementation can improve cellular defense against inflammation and oxidative stress in MSUD patients and may represent an additional therapeutic approach to the patients affected by this disease

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