Inborn Metabolic Diseases: Diagnosis and Treatment

I Diagnosis and treatment: General principles:  

1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.-

3 Diagnostic Procedures.- 4 Emergency Treatments

II Disorders of Energy Metabolism

5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9

Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis

III Small Molecule Disorders

14 Disorders of Galactose Metabolism.- 15  Disorders of Fructose Metabolism.- 16

 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19  Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21  Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24  Disorders of Glutamine, Serine and Asparagine Metabolism.- 25

 Disorders of Amino Acid Transport at the Cell Membrane.- 26  Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29  Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33  Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc  

IV Complex Molecule Disorders and Cellular Trafficking Disorders

35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.-

38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking

V Appendices

45 Medications Used in the Treatment of Inborn Errors