Gaucher disease type I: Assessment of basal metabolic rate in patients from southern Brazil

Abstract

Introduction Gaucher disease (GD) is characterized by clinical heterogeneity and is associated with metabolic abnormalities such as increased resting energy expenditure. Objectives To assess the basal metabolic rate (BMR) of patients with GD type I followed at the Gaucher Disease Reference Center of Rio Grande do Sul, Brazil. Patients and Methods Fourteen patients (male = 6) and 14 healthy controls matched by gender, age and body mass index (BMI) were included in the study. The nutritional status of patients was assessed by BMI. The BMR was measured by indirect calorimetry. In two patients, it was possible to perform BMR in the pre- and the post-treatment periods. Results Mean age and BMI of patients and controls were, respectively, 32.8 ± 17.6 and 32.1 ± 16.6 years and 23.3 ± 3.1 and 22.4 ± 3.1 kg/m 2. Twelve patients were receiving enzyme replacement therapy (ERT) with imiglucerase (mean duration of treatment = 5.2 ± 4.3 years; mean dosage of imiglucerase = 24.2 ± 7.3 UI/kg/inf). Five patients (36%) were overweight, and nine (64%) were normal weight. Mean BMR of patients on ERT was 27.1% higher than that of controls ( p = 0.007). There was no difference between the BMR of patients on ERT and not on ERT ( n = 4) ( p = 0.92). Comparing the BMR of patients on ERT and their controls with the BMR estimated by the Harris-Benedict equation, the BMR of patients was 6.3% higher than the estimated ( p = 0.1), while the BMR of their controls was 17.0% lower than the estimated ( p = 0.001). Conclusion Most treated GD type I patients were normal weight. The patients including those on ERT showed higher BMR when compared to controls. Imiglucerase is probably unable to normalize the hypermetabolism presented by GD type I patients. Additional studies should be performed to confirm our findings.