Protein Metabolism and Its Profiling for the Diagnosis of Metabolic Disorders

Proteins play a pivotal role as essential macromolecules, constructed from amino acids, and are vital for the intricate functions within cells. In maintaining cellular well-being, a delicate equilibrium prevails between the synthesis and breakdown of proteins. Yet, when subjected to heightened catabolic activity triggered by epigenetic influences, disturbances in metabolism can emerge. These disruptions manifest as Hereditary Metabolic Disorders (HMDs) and genetic disease conditions predominantly inherited through autosomal recessive traits. HMDs, characterized by inherent errors in protein metabolism enzymes, impair the body’s capacity to appropriately process proteins and other crucial substances. Diagnosing these disorders can be challenging due to varied and nonspecific symptoms. Early detection is vital and involves basic metabolic tests in blood or urine. Advanced techniques, such as ion exchange chromatography, mass spectrometry, and next-generation sequencing (NGS), aid in identifying specific biomarkers and genetic mutations associated with these conditions. The use of advanced diagnostic methods and promising metabolomic approaches with biomarkers holds the potential in improving the management of HMDs and provides better outcomes for affected individuals. The chapter will center on protein metabolic inherited disorders, exploring the diverse diagnostic techniques employed for their identification and management.