Enzyme deficiencies disrupt metabolic pathways, leading to conditions like Gaucher’s disease and Tay-Sachs disease. Accurate diagnosis and treatment are vital for managing these conditions. This book provides insights into the molecular basis of enzyme deficiency disorders, focusing on diagnostic techniques and treatment options. It discusses enzyme replacement therapy, gene therapy, and emerging treatments. Clinical cases highlight real-world applications, helping readers understand the complexities of managing these disorders.
Claire Stewart is a biochemist focused on enzyme deficiency disorders and their diagnosis and treatment. Her work examines the molecular basis of enzyme deficiencies and their impact on health. Claire has authored key studies on inherited enzyme disorders, such as phenylketonuria and Gaucher’s disease. Her research includes developing enzyme replacement therapies and other treatments for these conditions. Claire’s work is at the forefront of advancing clinical care for patients with enzyme deficiency disorders.