Kidney Week

Abstract: SA-PO0113

Energy Metabolism in Fabry Disease: A Cross-Sectional Analysis of Resting Energy Expenditure, Body Composition, and Exercise Capacity

Session Information

• ADPKD and Cystic Kidney Disease - 3
  October 24, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)

Authors

• Battaglia, Yuri, Universita degli Studi di Trento, Trento, Trentino-Alto Adige/South Tyrol, Italy

Yuri Battaglia, MD, PhD

• Gugelmo, Giorgia, Azienda Ospedale Universita Padova, Padua, Veneto, Italy

Giorgia Gugelmo

• Tosetto, Francesca, Universita degli Studi di Padova, Padua, Veneto, Italy

Francesca Tosetto

• D Angelo, Matteo, Azienda Ospedale Universita Padova, Padua, Veneto, Italy

Matteo D Angelo, MSc

• Gasperetti, Andrea, Universita degli Studi di Padova, Padua, Veneto, Italy

Andrea Gasperetti

• Lenzini, Livia, Universita degli Studi di Padova, Padua, Veneto, Italy

Livia Lenzini, PhD

• Baciga, Federica, Ospedale P Pederzoli Casa di Cura Privata SpA, Peschiera del Garda, Veneto, Italy

Federica Baciga

• Busetto, Luca, Universita degli Studi di Padova, Padua, Veneto, Italy

Luca Busetto

• Carraro, Gianni, Azienda Ospedale Universita Padova, Padua, Veneto, Italy

Gianni Carraro, MD

• Vitturi, Nicola, Universita degli Studi di Padova, Padua, Veneto, Italy

Nicola Vitturi, DrMed

Background

Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by multisystem involvement. Exercise intolerance and fatigue in FD may reflect underlying metabolic dysfunction; however, energy metabolism in these patients remains poorly characterized. This cross-sectional study aimed to evaluate energy metabolism in FD by assessing resting energy expenditure (REE), aerobic capacity, and body composition, and to explore their associations with sex, phenotype, and treatment status.

Methods

Adults (≥18 years) with genetically confirmed FD were enrolled. Demographic and laboratory data were collected. REE was measured by indirect calorimetry, and aerobic capacity was assessed by cardiopulmonary exercise testing (VO2 peak [% predicted]). Body composition was evaluated using bioelectrical impedance analysis (fat-free mass [FFM], fat-free mass index [FFMI], and phase angle [PA]). Dietary intake was assessed by food diaries. Statistical analyses were stratified by sex, phenotype (classic vs late-onset), and treatment status (enzyme replacement therapy [ERT] or chaperone therapy vs untreated).

Results

Thirty-one patients with FD (12 males; mean age 44.6 ± 15.5 years) were included. In multivariable linear regression analysis, FFM was independently associated with absolute REE (β = 25.12, SE = 5.22, p < 0.001), after adjustment for sex, age, phenotype, treatment status, and VO2 peak (% predicted). REE normalized to FFM showed minimal variation across clinical subgroups. Among males, REE/FFM was positively correlated with VO2 peak (% predicted) (r = 0.737, p = 0.010) and PA (r = 0.578, p = 0.049). Males with the classic phenotype had lower FFMI compared with those with late-onset disease (17.5 ± 1.8 vs 21.9 ± 1.4 kg/m2, p = 0.001). In males, PA was lower in treated versus untreated patients (5.1 ± 1.1 vs 7.4 ± 1.2°, p = 0.008). Lyso-Gb3 levels were inversely associated with BMI (ρ = −0.720, p = 0.011) and FFMI (ρ = −0.809, p = 0.004).

Conclusion

Classic FD, particularly in males, was associated with lower lean mass indices and reduced aerobic capacity, while REE relative to FFM remained stable. The inverse association between lyso-Gb3 and both FFMI and BMI suggests a link between metabolic impairment and disease burden.