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Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation.
Metab Brain Dis. 2015 Oct; 30(5):1167-74.MB

Abstract

Maple Syrup Urine Disease (MSUD) is a metabolic 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 inflammatory 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-ɣ), and a correlation with malondialdehyde (MDA), as a marker of oxidative damage, and with free L-car plasma levels in treated MSUD patients. Significant increases of IL-1β, IL-6, and INF-ɣ 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 patients and may represent an additional therapeutic approach to the patients affected by this disease.

Authors+Show Affiliations

Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil, carolmescka@yahoo.com.br.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26002427

Citation

Mescka, Caroline Paula, et al. "Investigation of Inflammatory Profile in MSUD Patients: Benefit of L-carnitine Supplementation." Metabolic Brain Disease, vol. 30, no. 5, 2015, pp. 1167-74.
Mescka CP, Guerreiro G, Donida B, et al. Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation. Metab Brain Dis. 2015;30(5):1167-74.
Mescka, C. P., Guerreiro, G., Donida, B., Marchetti, D., Wayhs, C. A., Ribas, G. S., Coitinho, A. S., Wajner, M., Dutra-Filho, C. S., & Vargas, C. R. (2015). Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation. Metabolic Brain Disease, 30(5), 1167-74. https://doi.org/10.1007/s11011-015-9686-9
Mescka CP, et al. Investigation of Inflammatory Profile in MSUD Patients: Benefit of L-carnitine Supplementation. Metab Brain Dis. 2015;30(5):1167-74. PubMed PMID: 26002427.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation. AU - Mescka,Caroline Paula, AU - Guerreiro,Gilian, AU - Donida,Bruna, AU - Marchetti,Desirèe, AU - Wayhs,Carlos Alberto Yasin, AU - Ribas,Graziela Schimitt, AU - Coitinho,Adriana Simon, AU - Wajner,Moacir, AU - Dutra-Filho,Carlos Severo, AU - Vargas,Carmen Regla, Y1 - 2015/05/24/ PY - 2015/03/02/received PY - 2015/05/15/accepted PY - 2015/5/24/entrez PY - 2015/5/24/pubmed PY - 2016/6/25/medline SP - 1167 EP - 74 JF - Metabolic brain disease JO - Metab Brain Dis VL - 30 IS - 5 N2 - Maple Syrup Urine Disease (MSUD) is a metabolic 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 inflammatory 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-ɣ), and a correlation with malondialdehyde (MDA), as a marker of oxidative damage, and with free L-car plasma levels in treated MSUD patients. Significant increases of IL-1β, IL-6, and INF-ɣ 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 patients and may represent an additional therapeutic approach to the patients affected by this disease. SN - 1573-7365 UR - https://www.unboundmedicine.com/medline/citation/26002427/Investigation_of_inflammatory_profile_in_MSUD_patients:_benefit_of_L_carnitine_supplementation_ L2 - https://doi.org/10.1007/s11011-015-9686-9 DB - PRIME DP - Unbound Medicine ER -