Genetic and metabolic abnormalities underpin many congenital and acquired disorders with systemic consequences. This book examines the pathological basis of inherited and biochemical diseases, highlighting diagnostic criteria and clinical relevance. Topics include lysosomal storage diseases, mitochondrial disorders, and inborn errors of metabolism, along with chromosomal anomalies and single-gene defects. Laboratory testing such as enzyme assays, genetic panels, and metabolite profiling are discussed in context. Case illustrations and pedigree analyses support the clinical application of knowledge. The resource bridges molecular biology with systemic pathology to enhance diagnostic accuracy in both pediatric and adult populations.
Reign Clarke currently holds a senior academic position in medical genetics and metabolic research. With over two decades of teaching experience, she brings expertise in inherited disorders, biochemical imbalances, and diagnostic molecular pathology. She has contributed extensively to peer-reviewed journals and regularly presents at international pathology conferences. Her research focuses on the genetic underpinnings of rare diseases and the metabolic pathways involved in systemic dysfunction. She also serves on advisory boards for several genomic health initiatives and clinical genetics programs.