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• W1567225594 abstract "Purpose – The purpose of this paper is a single-center six-month follow-up study to determine nutritional status of children with maple syrup urine disease (MSUD). Prolonged restriction on essential amino acid could cause malnutrition. By far, there is no study reported in the context of nutritional status among children with maple syrup urine disease (MSUD), who required life-long protein restriction. Design/methodology/approach – A total of 22 children with MSUD, aged from 1 to 12 years (6.54 ± 3.27) undergoing regular treatment in Institute of Pediatrics, Hospital Kuala Lumpur, were recruited. Body height, weight and head circumference were measured for anthropometry, whereas total protein, albumin and plasma branched-chain amino acid were measured for biochemical aspects. Clinical features diagnosed by pediatrician were recorded from children’s medical record. The 24-hour dietary recall was conducted to measure their nutrients intake. All assessments were repeated at six-month interval except clinical profile. Findings – There were no significant differences in all nutritional parameters from baseline to end of the visit. There was a prominence (particular noticeable of) of growth stunting (68; 64 per cent), undernutrition (35; 32 per cent) and microcephalic (57; 57 per cent) among children with MSUD. Nevertheless, children showed no significant improvement of anthropometric variables from baseline and after 6-month follow-up visit. Nearly all biochemical indicators were significantly ( p < 0.05) higher than the reference value except valine. Intellectual disability was the most frequently (71 per cent) presenting symptoms among them. The finding also did not show any macro- or micronutrients fail to achieve above recommended nutrient intake in both visits. In conclusion, it is clear that no significant nutritional deficiency was induced by the use of MSUD dietary therapy; however, the findings indicated that MSUD children are at risk of malnutrition and regular nutritional assessment and monitoring should always be emphasized for optimal linear growth without affecting their amino acid profiles. Research limitations/implications – Multiple 24-hour recalls instead of single 24-hour recall should be used in this study for a better estimate of intake. Originality/value – Although there are retrospective studies targeted in presenting the clinical and biochemical profile of MSUD children which has been extensively examined, limited research has focused on prospective aspect of nutritional status of these children who are undergoing active and regular diet and medical nutrition therapy because of the absence of comprehensive reliable nutritional assessment data." @default.
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• W1567225594 date "2015-03-09" @default.
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• W1567225594 title "Growth and nutritional status of children with maple syrup urine disease (MSUD)" @default.
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• W1567225594 doi "https://doi.org/10.1108/nfs-08-2014-0077" @default.
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