Small Molecule Therapy for Genetic Disease

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise 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.1. FDA and the regulation of small molecules for orphan diseases Marlene Haffner and Tan Nguyen; 2. The office of rare diseases research: serving a coordinating function at the national institutes of health Stephen C. Groft; 3. Introduction to pharmacokinetics and pharmacodynamics Juan J. L. Lertora and Konstantina M. Vanevski; 4. Biotin and biotin-responsive disorders Barry Wolf and Kirit Pindolia; 5. Cobalamin treatment of methylmalonic acidemias Hans C. Andersson; 6. Sapropterin treatment of phenylketonuria Barbara K. Burton; 7. L-carnitine therapy in primary and secondary carnitine deficiency disorders Susan C. Winter, Brian Schreiber and Neil R. M. Buist; 8. Cysteamine treatment of nephropathic cystinosis Jess Thoene; 9. Nitisinone use in hereditary tyrosinemia and alkaptonuria William A. Gahl, Wendy J. Introne and Kevin O'Brien; 10. Alternative waste nitrogen disposal agents for urea cycle disorders Gregory M. Enns; 11. PDMP based glucosylceramide synthesis inhibitors for Gaucher and Fabry disease James A. Shayman; 12. Betaine treatment for the homocystinurias Harvey L. Levy and Amy Lawson-Yuen; 13. Zinc and tetrathiomolybdate for the treatment of Wilson's disease George J. Brewer; 14. Small copper complexes for treatment of ATP7A-related disorders Stephen G. Kaler.