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Energy metabolism in Bardet–Biedl syndrome


INTRODUCTION: Obesity is a consistent presenting feature of the Bardet–Biedl syndrome (BBS), a hereditary disorder caused by a single gene defect. This contrasts sharply with general obesity which, despite a strong hereditary component, has a multifactorial aetiology. For BBS, the phenotypic characterisation of the components of energy balance and the implications for their management remains relatively uninvestigated.

OBJECTIVE: A case–control study to determine whether energy metabolism in subjects with BBS differs from matched obese controls and to inform the clinical management of these patients.

METHODS: A total of 20 overweight and obese subjects with BBS (11 females, 9 males) matched for age, gender and BMI to 20 subjects without BBS. Resting metabolic rate (RMR) was measured by indirect calorimetry, physical activity by CSA accelerometry, body composition by the deuterium dilution technique and dietary intake by 7-day food records.

RESULTS: There was no significant difference between BBS and control subjects in body fat (male: % fat=38, s.d. 2.8 vs 34, s.d. 9.1, female: % fat=45, s.d. 5.9 vs 44, s.d. 8.1; P=0.46] or absolute RMR (male: 6.95, s.d. 1.55 MJ/day vs 7.19, s.d. 1.28 MJ/day; P=0.6). After adjustment for gender, age, fat-free mass and fat mass, there was no significant difference in RMR between BBS and control subjects (F(1, 30)=0.91; P=0.35). A lower level of physical activity was observed in BBS subjects (median cnts/min 259, IQR=153) compared to controls (median cnts/min=306, IQR=119, P=0.02). Reported energy intake, macronutrient composition and magnitude of under-reporting were comparable in both groups.

CONCLUSION: This study reveals no evidence for systematic differences in energy metabolism in subjects with BBS relative to other obese individuals, suggesting that the genetic basis of BBS is not associated with specific abnormalities in energy metabolism. This is an important finding for clinical management and supports the use of energy prescriptions based on RMR for the general obese population plus an appropriate allowance for energy expended via physical activity. Further research is needed on physical activity in BBS.

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We thank all those volunteers from the BBS Society who agreed to take part in this research and who endured the various tests with patience and good humour. We also thank Sandro Leidi, Reading University, UK for help with the statistical analysis. The BBS Society is a charitable organisation run by volunteers and parents of children with BBS and is the central source of information, advice and support on a variety of issues relating to the difficulties encountered by those with BBS and their families. The family conference day, organised on an annual basis by the Society, invites various health professionals to contribute on a variety of different subjects, and is the focal point of the Society's education and support initiatives.

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Correspondence to C Grace.

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Grace, C., Beales, P., Summerbell, C. et al. Energy metabolism in Bardet–Biedl syndrome. Int J Obes 27, 1319–1324 (2003).

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