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Table 1 Studies assessing nutritional status disorders in adult and paediatric GD1 patients

From: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Author (year)Study populationMain findings
Barton et al., 1989 [19]25 untreated GD1 patients, both children and adultsREEa 44% higher than estimated REE
Corssmit et al., 1995 [18]7 untreated, adult GD1 patientsREEa 24% greater than in age-, sex- and weight-matched healthy subjects
Doneda et al., 2011 [21]14 GD1 patients (12 on ERT, 2 untreated), both children and adultsBMR of patients 6.3% higher than expected REE.
Observed BMR of patients on ERT 27.1% higher than in age-, sex- and BMI-matched controls.
No difference between the BMR of subjects with or without ERT
Giraldo et al., 2016 [8]108 GD1 patients, 99 adults, 9 children 88% were receiving ERT or SRTPrevalence of underweight (BMI < 18.5) - 3% in all GD1 patients - 2% in treated with ERT/SRT, 9% in untreated.
Prevalence of overweight and obesity - 29% in all GD1 patients - 27% in treated with ERT/SRT, 46% in untreated.
Higher incidence of overweight and obesity in splenectomised vs. non-splenectomised patients - 36 vs. 27%
Grigorescu Sido et al., 2007 [20]24 GD1 patients, both children and adult, evaluated before and during ERT for at least 18 months.A mean weight gain of 4.3 kg during 18 months of ERT
Heitner et al., 2004 [14]9 paediatric GD1 patients, followed up for 2–10 years during ERTAn increase in weight during ERT was observed with an average weight gain of 3.9 kg per year
Hollak et al., 1997 [17]12 adult GD1 patients, evaluated before and after 6 months of ERTPre-ERT REEa 25% greater than in age-, and weight-matched healthy subjects.
Decrease of REEa after 6 months of ERT from 129 to 120% of expected values.
Appearance of increase in weight (mean 1.7 +/−  0.8 kg) after 6 months of ERT; mainly a significant increase in fat mass (mean 1.6 +/−  1.5 kg)
Langeveld et al., 2008 [16]42 adult GD1 patients (7 untreated, 35
on ERT
Initial overweight incidence14%16%
Weight gain3.8 kg or 2.2 kg/m2 during 8.2 year-follow up6 kg or 2.4 kg/m2 during 11 years of ERT
Final overweight incidence57%56%
Data presented as median values
Weight changes in untreated GD1 subjects similar to the controls and to treated GD1 patients.
Oliveira et al., 2002 [13]13 paediatric GD1 patients, 77% treated with ERTPre-ERT malnutrition rate - 26% .
Post-ERT (after a median therapy of 5.3 years) malnutrition rate increased to 48%
  1. BMI body mass index; BMR basal metabolic rate; ERT enzyme replacement therapy; GD1 Gaucher disease type 1; REE resting energy expenditure; SRT substrate reduction therapy
  2. a determined by indirect calorimetry