Table of Contents

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.

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Thoene focuses on innovative and progressive small molecule therapies with potentially life-saving therapeutic responses for metabolic genetic disorders.

About the Author

Dr Jess G. Thoene is currently Director of the Biochemical Genetics Laboratory in the Division of Pediatric Genetics at the University of Michigan in Ann Arbor and an Active Emeritus Professor of Pediatrics. He has held positions in numerous organizations, including Director of the Hayward Center for Human Genetics at Tulane University Health Sciences Center; Fellow and Medical Director of the Joseph P. Kennedy, Jr Foundation; member of the Board of Directors of Copley Pharmaceuticals; and Chairman of the Board of Directors of the National Organization for Rare Disorders. He has authored numerous articles on inborn errors of metabolism, holds three U.S. patents, and is certified in pediatrics and clinical biochemical genetics.