Frontiers in Lysosomal Storage Diseases (LSD) Treatments (eBook)

This book provides a comprehensive collection of more than 50 inherited metabolic lysosomal disorders which aims to provide the most up to date literature sources oriented toward improving our understanding of rare diseases to meet the diverse needs of scientists, physicians, pharmacists, nurses, and other health care professionals with an interest in serving patients with diseases such as Gaucher, Fabry, Pompe, and others. The book is divided into 24 chapters. Chapter 1 is an introduction about LSDs, a group of rare diseases due to deficiency in lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Chapter 1 discussed the function of lysosomes, methods to differentiate lysosome dysfunctions, and current therapeutic approaches including Hematopoietic Stem Cells Transplantation (HSCT), Enzyme Replacement Therapy (ERT), Substrate Reduction Therapy (SRT), Pharmacologic Chaperone Therapy (PCT), and Gene Therapy. Chapter 1 provides a list of different LSDs based on their name, clinical name, gene being affected, enzyme or protein deficiency, primary storage accumulation, and major organs being affected. From Chapter 2 to Chapter 24, information about the diseases, characteristics, diagnosis, pathophysiology of the disease, current and future treatment options from reputable books, journals, monographs, clinical trials, and other resources were used to provide up-to-date medical information on these devastating diseases. New drugs in the pipeline such as Gene Therapy or Gene Editing Therapy, if applicable, are also discussed in the book. Within the last 20 years, the FDA has designated more than 100 compounds as Orphan Drugs to treat LSD, although not all drugs make it into clinical trials. This is an exciting time for us to learn about these rare metabolic disorders as more information has become available.