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Small Molecule Therapy for Genetic Disease - Jess G. Thoene

Small Molecule Therapy for Genetic Disease

By: Jess G. Thoene (Editor)

Hardcover

Published: 23rd August 2010
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This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are discrete, often of natural origin, and provide predictable therapeutic responses. As such, they avoid many of the practical difficulties associated with gene and protein therapies. This handbook will enable interested clinician scientists and others to rapidly survey the field, thus ascertaining what has been done and as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. These chapters focus on an introduction to pharmacokinetics and pharmacodynamics, a description of the FDA Office of Orphan Products, and a summary of the operation of the National Institutes of Health Office of Rare Diseases. The remainder of the book is devoted to a review of small molecule therapy for genetic diseases. The book closely analyzes the cofactors used to augment the function of defective enzymes and the compounds that are able to utilize an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

FDA and the regulation of small molecules for orphan diseases
The office of rare diseases research: serving a coordinating function at the national institutes of health
Introduction to pharmacokinetics and pharmacodynamics
Biotin and biotin-responsive disorders
Cobalamin treatment of methylmalonic acidemias
Sapropterin treatment of phenylketonuria
L-carnitine therapy in primary and secondary carnitine deficiency disorders
Cysteamine treatment of nephropathic cystinosis
Nitisinone use in hereditary tyrosinemia and alkaptonuria
Alternative waste nitrogen disposal agents for urea cycle disorders
PDMP based glucosylceramide synthesis inhibitors for Gaucher and Fabry disease
Betaine treatment for the homocystinurias
Zinc and tetrathiomolybdate for the treatment of Wilson's disease
Small copper complexes for treatment of ATP7A-related disorders
Table of Contents provided by Publisher. All Rights Reserved.

ISBN: 9780521517812
ISBN-10: 0521517818
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 238
Published: 23rd August 2010
Publisher: Cambridge University Press
Country of Publication: GB
Dimensions (cm): 25.3 x 21.5  x 1.6
Weight (kg): 0.67
Edition Number: 1