RESEARCH ARTICLE Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation Caroline Paula Mescka 2,3 & Gilian Guerreiro 2,4 & Bruna Donida 2,3 & Desirèe Marchetti 2,3 & Carlos Alberto Yasin Wayhs 2,4 & Graziela Schimitt Ribas 2 & Adriana Simon Coitinho 5 & Moacir Wajner 2,3 & Carlos Severo Dutra-Filho 3 & Carmen Regla Vargas 1,2,3,4 Received: 2 March 2015 /Accepted: 15 May 2015 # Springer Science+Business Media New York 2015 Abstract Maple Syrup Urine Disease (MSUD) is a meta- bolic disorder caused by a severe deficiency of the branched-chain α-keto acid dehydrogenase complex activity which leads to the accumulation of branched-chain amino acids (BCAA) leucine (Leu), isoleucine and valine and their respective α-keto-acids 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 semi-synthetic formula restricted in BCAA and supplemented with essential amino acids. It was verified that MSUD patients present L-carnitine (L-car) deficiency and this compound has demonstrated an antioxidant and anti-inflammatory role in metabolic diseases. Since there are no studies in the literature reporting the inflammatory profile of MSUD patients and the L-car role on the inflam- matory response in this disorder, the present study evaluates the effect of L-car supplementation on plasma inflammatory cytokines interleukin-1β (IL-1β), interleukin-6 (IL-6), interferon-gamma (INF- ), and a correlation with malondialdehyde (MDA), as a marker of oxidative damage, and with free L-car plasma levels in treated MSUD pa- tients. Significant increases of IL-1β, IL-6, and INF- were observed before the treatment with L-car. Moreover, there is a negative correlation between all cytokines tested and L- car concentrations and a positive correlation among the MDA content and IL-1β and IL-6 values. Our data show that L-car supplementation can improve cellular defense against inflammation and oxidative stress in MSUD pa- tients and may represent an additional therapeutic approach to the patients affected by this disease. Keywords Maple syrup urine disease . L-carnitine . Inflammation . Oxidative stress . Antioxidant Abbreviations MSUD Maple syrup urine disease BCKAD Branched chain α-keto acid dehydrogenase BCAA Branched-chain amino acid Leu Leucine BCKA Branched chain α-keto acids KIC α-ketoisocaproic acid L-car L-carnitine IL-1β Interleukin-1β IL-6 Interleukin-6 IFN - Interferon-gamma MDA Malondialdehyde ROS Reactive oxygen species * Caroline Paula Mescka carolmescka@yahoo.com.br 1 Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000 Porto Alegre, RS, Brazil 2 Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil 3 Programa de Pós-Graduação em CB:Bioquímica, UFRGS, Rua Ramiro Barcelos, 2600, 90035 000 Porto Alegre, RS, Brazil 4 Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Av. Ipiranga, 2752, 90610-000 Porto Alegre, RS, Brazil 5 Programa de Pós-Graduação em CB:Fisiologia, UFRGS, Rua Sarmento Leite, 500-90050-170 Porto Alegre, RS, Brazil Metab Brain Dis DOI 10.1007/s11011-015-9686-9