Literature DB >> 26458887

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

Karen Campo1, Gabriela Castro2, Valerie Hamilton2, Juan Francisco Cabello2, Erna Raimann2, Carolina Arias2, Verónica Cornejo2.   

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.

Entities:  

Year:  2015        PMID: 26458887      PMCID: PMC4864776          DOI: 10.1007/8904_2015_500

Source DB:  PubMed          Journal:  JIMD Rep        ISSN: 2192-8304


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  2 in total

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2.  Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics.

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