Topic: Precision Nutrition and Personalized Therapeutic Strategies for Rare Metabolic Diseases

Rare metabolic diseases comprise a heterogeneous group of inherited disorders characterized by disrupted biochemical pathways, multisystem involvement, and highly variable clinical trajectories. Nutritional management is frequently central to treatment. Advances in genomics, metabolomics, microbiome research, digital monitoring, and targeted therapeutics are creating new opportunities to move from standardized dietary prescriptions toward precision nutrition and personalized care. Personalized therapeutic strategies may improve metabolic control, reduce complications, enhance adherence, and support quality of life across the lifespan. Integrating molecular and clinical data with dietary assessment and real-world monitoring can help identify patient-specific nutritional requirements, predict treatment response, and guide the use of medical foods, supplements, enzyme replacement, pharmacological therapies, and emerging gene-based interventions.

This Special Issue will highlight original research, reviews, clinical studies, case series, and translational perspectives on precision nutrition and personalized treatment in rare metabolic diseases. Topics may include genotype–phenotype-informed dietary management, biomarkers and multi-omics, individualized protein or substrate restriction, micronutrient optimization, microbiome-directed interventions, digital tools and wearable technologies, therapeutic monitoring, patient-reported outcomes, and innovative pharmacological or gene-based strategies. Contributions addressing pediatric-to-adult transition, multidisciplinary care, and implementation in clinical practice are also encouraged. The overall aim is to promote evidence-based, patient-centered approaches that translate biological variability into safer, more effective, and sustainable care.