Lactate and pyruvate as inborn errors of metabolism screening markers and their analytical challenges—a review

This comprehensive review emphasizes the significance of lactate, pyruvate, and its ratio in the initial screening of Inborn errors of Metabolism. Inborn errors of metabolism (IEM) is a heterogeneous group of disorders resulting in metabolic dysfunction leading to the build-up of abnormal metabolite or energy deficiency. The disorder poses a significant risk of mortality in children, and failure to treat it at the right time can affect their physical and psychological well-being. Lactate and pyruvate are indeed important biomarkers used in the screening of IEM, particularly those affecting energy metabolism. These markers are often altered in conditions related to mitochondrial dysfunction or defects in the metabolic pathway related to energy metabolism. This review examines various available techniques for measuring these metabolites, discussing their respective benefits and limitations. Findings highlight that genetic or molecular methods are essential for confirming a diagnosis. However, their high cost and resource demands limit their use in initial screenings, especially in resource-constrained settings like India. Implementing lactate and pyruvate as accessible and practical screening markers can improve early screening of IEM involving energy metabolism imbalance. Bridging the gap between clinical requirements and laboratory capacities and incorporating cost-effective diagnostic approaches into early screening can significantly enhance disease management. This integration could lower long-term healthcare expenses and improve the quality of life for affected children. This review recommends that clinicians and policymakers prioritize developing and standardizing cost-effective biochemical screening strategies and standard operating protocols for energy metabolism disorders. Such efforts would enhance accessibility, particularly in underserved populations, and facilitate the early detection and effective management of energy metabolism disorders at both community and primary healthcare levels.