Classical homocystinuria, is it safe to exercise?

• Published in: Molecular genetics and metabolism reports 2021-06, Vol.27, p.100746-100746, Article 100746
• Main Authors: Tankeu, Aurel T., Van Winckel, Geraldine, Campos-Xavier, Belinda, Braissant, Olivier, Pedro, Rosette, Superti-Furga, Andrea, Amati, Francesca, Tran, Christel
• Format: Article
• Language: English
• Subjects: Amino acids; Cystathionine β synthase deficiency; Exercise; Homocysteine; Indirect calorimetry; Research Paper; Resting metabolic rate
• ISSN: 2214-4269; 2214-4269
• DOI: 10.1016/j.ymgmr.2021.100746

Background Cystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocysteine (tHcy) raising the possibility that exercise might be detrimental in CBS deficiency. Our main objective was to determine plasma tHcy kinetics in response to physical exercise in homocystinuria patients. Methods Six adult patients (2 males, 4 females) with homocystinuria and 6 age- and gender-matched controls completed a 30-min aerobic exercise of moderate-intensity with fixed power output (50 W for women and 100 W for men). Blood samples were drawn before, immediately, 180 min and 24 h after exercise. tHcy levels were determined by standard procedures; substrate oxidation and energy expenditure were measured using indirect calorimetry. Results Acute exercise was well tolerated and safe in patients and controls. During the exercise bout, heart rate and energy expenditure increased equally in both groups. tHcy levels were higher in patients compared to controls at all time points (p