Contents

pp v-vi

Contributors

pp vii-x

Preface

pp xi-xiv

SECTION I - INFRASTRUCTURE

pp 1-2

1 - The U.S. Food and Drug Administration and the regulation of small molecules for orphan diseases

pp 3-18

2 - The Office of Rare Diseases Research: Serving a coordinating function at the National Institutes of Health

pp 19-34

3 - Introduction to pharmacokinetics and pharmacodynamics

pp 35-54

SECTION II - COFACTORS

pp 55-56

4 - Biotin and biotin-responsive disorders

pp 57-67

5 - Cobalamin treatment of methylmalonic acidemias

pp 68-75

6 - Sapropterin treatment of phenylketonuria

pp 76-85

7 - L-carnitine therapy in primary and secondary carnitine deficiency disorders

pp 86-98

SECTION III - UTILIZATION OF ALTERNATIVE PATHWAYS

pp 99-100

8 - Cysteamine treatment of nephropathic cystinosis

pp 101-113

9 - Nitisinone use in hereditary tyrosinemia and alkaptonuria

pp 114-134

10 - Alternative waste nitrogen disposal agents for urea cycle disorders

pp 135-152

11 - PDMP-based glucosylceramide synthesis inhibitors for Gaucher and Fabry diseases

pp 153-172

12 - Betaine treatment for the homocystinurias

pp 173-182

SECTION IV - METAL ION THERAPY

pp 183-184

13 - Zinc and tetrathiomolybdate for the treatment of Wilson disease

pp 185-201

14 - Small copper complexes for treatment of acquired and inherited copper deficiency syndromes

pp 202-212

Index

pp 213-223

Plates section