Nutrition and exercise in Pompe disease

Area of Science:

• Biochemistry
• Clinical Nutrition
• Exercise Physiology

Background:

• Pompe disease (PD) management primarily relies on enzyme replacement therapy (ERT).
• Exercise and nutrition are often viewed as supportive, not primary treatments.
• Locomotor disability in PD necessitates careful energy intake management to prevent obesity and ensure adequate nutrient levels.

Purpose of the Study:

• To review the theoretical and practical applications of nutrition and exercise as therapeutic interventions for Pompe disease.
• To highlight the importance of nutritional assessment and supplementation in PD patients.
• To explore the role of autophagy in PD and how nutrition and exercise might modulate it.

Main Methods:

• Literature review evaluating existing research on nutrition and exercise in Pompe disease.
• Analysis of the pathophysiological role of autophagy in PD.
• Examination of nutritional strategies including micronutrient replacement and amino acid intake.
• Assessment of exercise interventions and their impact on functional outcomes.

Main Results:

• Nutritional deficiencies (protein, vitamin D, B12) are common in PD and require targeted replacement.
• Nutritional timing and specific amino acid supplementation (L-arginine, L-leucine) warrant investigation due to autophagy's role in PD.
• Exercise interventions have demonstrated significant improvements in walking distance, exceeding those in early ERT studies.
• Exercise therapy can activate autophagy, contributing to its therapeutic efficacy.

Conclusions:

• Nutrition and exercise represent crucial, evidence-supported therapeutic strategies for Pompe disease, complementing ERT.
• Personalized nutritional plans addressing potential deficiencies and optimizing nutrient timing are essential.
• Exercise interventions offer significant functional benefits and may modulate disease pathophysiology through autophagy activation.