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Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)

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Book cover JIMD Reports, Volume 26

Part of the book series: JIMD Reports ((JIMD,volume 26))

Abstract

Introduction: Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a blockage of branched-chain keto acid of BCAA (branched-chain keto acid dehydrogenase, BCKDH) leading to neurological damage induced by accumulation of leucine and metabolites. MSUD expenditure and energy requirement information is limited.

Objective: To determine if basal/total energy expenditure (BEE/TEE) is comparable between different determination methods and if values agree with recommendations of energy in MSUD children, and whether they relate to nutritional status.

Methods: Case-control study between MSUD (n = 16) and healthy children (n = 11) aged 6–18 years. Current nutritional status, physical activity level, body composition by DEXA and BEE/TEE by indirect calorimetry (BEEr) and predictive equations (FAO/WHO/ONU – WHO – and Schofield) were assessed; STATA 2013 (p < 0.05).

Results: When comparing the energy expenditure variables, there was no significant difference between groups. Moreover, compared to BEEr, equations underestimate according to BEE WHO and Schofield, respectively (P = 0.00; 0.02). The WHO equation had lower average calorie difference, greater concordance correlation and association with indirect calorimetry compared to the Schofield equation for both groups, being the best predictor of the BEE for MSUD group.

Conclusion: Energy recommendations for MSUD children are according to energy expenditure; thus the use of WHO equation is a clinically and statistically feasible tool for its determination.

Competing interests: None declared

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Authors and Affiliations

  1. INTA – Instituto de Nutrición y TecnologÚa de Alimentos Doctor Fernando Monckeberg Barro, University of Chile, Av. El Líbano 5524, Macul, Macul, Santiago, Chile

    Karen Campo, Gabriela Castro, Valerie Hamilton, Juan Francisco Cabello, Erna Raimann, Carolina Arias & Verónica Cornejo

Authors
  1. Karen Campo
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  2. Gabriela Castro
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  3. Valerie Hamilton
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  4. Juan Francisco Cabello
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  5. Erna Raimann
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  6. Carolina Arias
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  7. Verónica Cornejo
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Corresponding author

Correspondence to Karen Campo .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany

    Verena Peters

Additional information

Communicated by: Daniela Karall

Appendices

Funding

Laboratory of Genetics and Metabolic Diseases – Thesis project.

Compliance with Ethics Guidelines

Conflict of Interest

Karen Campo, Gabriela Castro, Valerie Hamilton, Juan Francisco Cabello, Erna Raimann, Carolina Arias, and Verónica Cornejo declare that they have no conflict of interest.

Informed Consent

All procedures were in accordance with the ethical standards of the Instituto de Nutrición y Tecnología de Alimentos – INTA – ethics committee and with the Helsinki Declaration, the Nüremberg Code of 1975, and the regulations for ethics committees of the University of Chile. Informed consent was obtained from all participants.

Details of the Contributions of Individual Authors

  1. 1.

    Karen Campo: First author responsible for planning, conducting and executing the study, data analysis, and reporting of the work described in the article.

  2. 2.

    Gabriela Castro: Helped plan the study and reviewed the work described in the article.

  3. 3.

    Valerie Hamilton: Helped plan the study and reviewed the work described in the article.

  4. 4.

    Juan Francisco Cabello: Reviewer.

  5. 5.

    Erna Raimann: Reviewer.

  6. 6.

    Carolina Arias: Reviewer.

  7. 7.

    Verónica Cornejo: Mentor and Chief of Laboratory.

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Campo, K. et al. (2015). Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_500

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  • DOI: https://doi.org/10.1007/8904_2015_500

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  • Print ISBN: 978-3-662-49832-3

  • Online ISBN: 978-3-662-49833-0

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