Frontiers In Lysosomal Storage Diseases (LSD) Treatments (Original PDF From Publisher)

Frontiers In Lysosomal Storage Diseases (LSD) Treatments (Original PDF From Publisher)

Written by Frank Columbus

More than fifty inherited metabolic lysosomal disorders are covered in detail in this book, which aims to satisfy the various needs of

scientists, doctors, pharmacists, nurses and other healthcare professionals who are interested in treating patients with conditions like

Gaucher, Fabry, Pompe and others.

The book also provides the most recent literature sources oriented toward improving our understanding of rare diseases.

There are 24 chapters in the book.

An overview of LSDs, a class of uncommon disorders caused by deficiencies in membrane transporters, lysosomal enzymes or other

proteins involved in lysosomal biology, is given in Chapter 1. In the first chapter, the role of lysosomes was covered, along with

techniques for identifying lysosome dysfunctions and the current therapeutic approaches, such as gene therapy, pharmacologic

chaperone therapy (PCT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction

therapy (SRT), and substrate reduction therapy (SRT).

A list of the various LSDs is given in Chapter 1 according to the following criteria: name, clinical name, gene affecting, enzyme or

protein deficiency, primary storage accumulation, and principal organs affected.

Up-to-date medical information on these debilitating diseases is provided in Chapters 2 through 24 using data from reliable books,

journals, monographs, clinical trials and other sources regarding the diseases, symptoms, diagnosis, pathophysiology of the disease,

and current and future treatment options.

The book also discusses upcoming medications like gene therapy and, if relevant, gene editing therapy.

Though not all medications are tested in clinical settings, the FDA has classified over 100 substances as Orphan Drugs in the previous

20 years to treat LSD.

With the increasing amount of information available, this is an exciting time for us to learn about these rare metabolic illnesses.