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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Communicated by: Daniela Karall
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Laboratory of Genetics and Metabolic Diseases – Thesis project.
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Karen Campo, Gabriela Castro, Valerie Hamilton, Juan Francisco Cabello, Erna Raimann, Carolina Arias, and Verónica Cornejo declare that they have no conflict of interest.
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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.
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Karen Campo: First author responsible for planning, conducting and executing the study, data analysis, and reporting of the work described in the article.
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2.
Gabriela Castro: Helped plan the study and reviewed the work described in the article.
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Valerie Hamilton: Helped plan the study and reviewed the work described in the article.
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Juan Francisco Cabello: Reviewer.
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Erna Raimann: Reviewer.
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Carolina Arias: Reviewer.
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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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