• Genetic and hereditary metabolic diseases are revealed through family-based case reports, enzymatic/genetic assays, and disease catalogs, forging a conceptual link between genotype and metabolic phenotype across multiple syndromes [1], [2], [16], [20], [18], [6], [19].

• Metabolic disease detection advanced via analytical screening technologies: gas-liquid chromatography, mass spectrometry, and plasma chromatography, enabling multicomponent profiling and population-scale screening [4], [10], [11].

• Biochemical studies of lipid and phospholipid metabolism in health and disease, linking liver function, adipose tissue, and energy storage, with citrate-driven lipogenesis and cholesterol esterification as core processes [7], [5], [11], [12].

• Metabolic dysregulation presenting as acidosis or storage diseases, illustrating inborn errors of lactate/pyruvate metabolism and related metabolic perturbations [3], [9], [20], [19].