Abstract
BACKGROUND: Late-onset Pompe disease (LOPD) is characterized by glycogen accumulation, leading to progressive weakness and gastrointestinal involvement. This study aimed to investigate the dietary habits and body composition phenotype of pediatric patients and to assess their correlations with motor ability and gastrointestinal symptom burden. METHODS: In this study, body composition was assessed by bio-electrical impedance analysis (BIA), and dietary intake was quantified using a food-frequency questionnaire. Clinical outcomes comprised the Gastrointestinal Symptom Rating Scale (GSRS) and the 6-min walk test (6MWT). Associations between variables were examined by correlation analyses. RESULTS: This study enrolled 30 children with LOPD and 30 healthy controls. Compared with controls, patients with LOPD exhibited significantly lower body mass index (BMI), intracellular water (ICW), total body water (TBW), skeletal muscle mass (SMM), protein mass (PM), and basal metabolic rate (BMR) (all P < 0.05). Children with LOPD displayed a markedly lower daily frequency of fruit intake, and increased consumption of dairy products and eggs. Correlation analyses revealed that multiple body composition parameters (ICW, SMM, etc.) were positively associated with motor performance (P < 0.05). For diet, soy product and dairy intakes correlated positively with 6-min walk distance (r = 0.389, P = 0.045; r = 0.386, P = 0.048), while vegetable intake correlated negatively with gastrointestinal symptom severity (r = -0.366, P = 0.047). CONCLUSION: LOPD children exhibited pronounced alterations in body composition and dietary pattern. These findings support the integration of nutritional assessment and dietary intervention into the comprehensive management of pediatric LOPD.