Front Cover; Genetic and Metabolic Disease in Pediatrics; Copyright Page; Preface; Contributors; Table of Contents; Chapter 1. Genetic causes of deviant metabolism. What do we know? What can we do?; ILLUSTRATIONS OF THEMES; References; Chapter 2. Genes; INTRODUCTION; THE STRUCTURE AND FUNCTION OF GENES; VARIATION IN THE WAY GENES DETERMINE THE STRUCTURE OF FUNCTIONAL PROTEINS; MUTATIONS; GENETIC HETEROGENEITY IN INHERITED DISEASE; DIRECT ANALYSIS OF DNA IN GENETIC PREDICTION; Acknowledgements; References; Chapter 3. The human gene map; INTRODUCTION; HISTORY; METHODS OF GENE MAPPING

HUMAN CHROMOSOME FRAGILE SITESGENE MAPPING IN HUMAN CANCER; CLINICAL HUMAN GENE MAP; USEFUL CLINICAL MAPPING RELATIONSHIPS; References; Chapter 4. The molecular basis of clinical heterogeneity in osteogenesis imperfecta: Mutations in type I collagen genes have different effects on collagen processing; CLINICAL HETEROGENEITY OF OSTEOGENESIS IMPERFECTA; COLLAGEN PROTEIN STRUCTURE, COLLAGEN FAMILIES AND GENE STRUCTURE; COLLAGEN BIOSYNTHESIS (Figure 4.4); IDENTIFICATION OF MUTATIONS THAT AFFECT COLLAGEN METABOLISM AND STRUCTURE

DIAGNOSIS OF INBORN ERRORS LEADING TO LACTICACIDEMIACONCLUSION; References; Chapter 7. Inborn errors of urea synthesis; INTRODUCTION; UREA SYNTHESIS; INBORN ERRORS OF UREAGENESIS; MANAGEMENT OF PARTIAL ENZYME DEFICIENCIES; GENETICS; MEASUREMENT OF PLASMA AMMONIUM AND PLASMA AMINO ACID LEVELS; Acknowledgements; Abbreviations; References; Chapter 8. The hyperphenylalaninaemias; INTRODUCTION; BIOCHEMICAL BACKGROUND; CLINICAL ASPECTS OF INHERITED DISORDERS; Abbreviations; References; Chapter 9. The hyperlipidaemias; PLASMA LIPIDS AND LIPOPROTEINS; HYPERLIPIDAEMIA AND HYPERLIPOPROTEINAEMIA