Small molecule therapy for genetic disease / edited by Jess G. Thoene.

Title from publisher's bibliographic system (viewed on 05 Oct 2015).

Infrastructure -- FDA and the Regulation of Small Molecules for Orphan Diseases / Marlene E. Haffner and Tan T. Nguyen -- Office of rare diseases research: serving a coordinating function at the National Institutes of Health / Stephen C. Groft -- Introduction to pharmacokinetics and pharmacodynamics / Juan J.L. Lertora and Konstantina M. Vanevski -- Cofactors -- Biotin and biotin-responsive disorders / Kirit Pindolia and Barry Wolf -- Cobalamin treatment of methylmalonic acidemias Hans C. Andersson -- Sapropterin treatment of phenylketonuria / Barbara K. Burton -- L-carnitine therapy in primary and secondary carnitine deficiency disorders / Susan C. Winter, Brian Schreiber, and Neil R.M. Buist -- Utilization of alternative pathways -- Cysteamine treatment of nephropathic cystinosis Jess G. Thoene -- Nitisinone use in hereditary tyrosinemia and alkaptonuria / Wendy J. Introne, Kevin J. O'Brien, and William A. Gahl -- Alternative waste nitrogen disposal agents for urea cycle disorders / Gregory M. Enns -- PDMP-based glucosylceramide synthesis inhibitors for gaucher and fabry disease / James A. Shayman -- Betaine treatment for the homocystinurias / Amy Lawson-Yuen and Harvey L. Levy -- Metal ion therapy -- Zinc and tetrathiomolybdate for the treatment of Wilson disease / George J. Brewer -- Small copper complexes for treatment of acquired and inherited copper deficiency syndromes / Stephen G. Kaler.

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.