Inborn Metabolic Diseases: Diagnosis and Treatment

Front Matter....Pages I-XXXI
Front Matter....Pages 1-1
Clinical Approach to Inborn Errors of Metabolism in Pediatrics....Pages 3-70
Inborn Errors of Metabolism in Adults : A Diagnostic Approach to Neurological and Psychiatric Presentations....Pages 71-89
Diagnostic Procedures....Pages 91-107
Emergency Treatments....Pages 109-117
Front Matter....Pages 119-119
The Glycogen Storage Diseases and Related Disorders....Pages 121-137
Disorders of Galactose Metabolism....Pages 139-147
Disorders of Glycolysis and the Pentose Phosphate Pathway....Pages 149-160
Disorders of Fructose Metabolism....Pages 161-168
Congenital Hyperinsulinism....Pages 169-174
Disorders of Glucose Transport....Pages 175-183
Front Matter....Pages 185-185
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle....Pages 187-199
Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism....Pages 201-213
Disorders of Ketogenesis and Ketolysis....Pages 215-221
Disorders of Oxidative Phosphorylation....Pages 223-242
Creatine Deficiency Syndromes....Pages 243-248
Front Matter....Pages 249-250
Hyperphenylalaninaemia....Pages 251-263
Disorders of Tyrosine Metabolism....Pages 265-275
Branched-chain Organic Acidurias /Acidaemias....Pages 277-294
Disorders of the Urea Cycle and Related Enzymes....Pages 295-308
Disorders of Sulfur Amino Acid Metabolism....Pages 309-320
Front Matter....Pages 249-250
Disorders of Ornithine and Proline Metabolism....Pages 321-331
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism....Pages 333-348
Nonketotic Hyperglycinemia (Glycine Encephalopathy ) and Lipoate Deficiency Disorders....Pages 349-356
Disorders of Glutamine , Serine and Asparagine Metabolism....Pages 357-362
Disorders of Amino Acid Transport at the Cell Membrane....Pages 363-371
Front Matter....Pages 373-373
Biotin-responsive Disorders....Pages 375-383
Disorders of Cobalamin and Folate Transport and Metabolism....Pages 385-399
Disorders of Thiamine and Pyridoxine Metabolism....Pages 401-412
Front Matter....Pages 413-413
Disorders of Neurotransmission....Pages 415-427
Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione....Pages 429-437
Front Matter....Pages 439-439
Inborn Errors of Lipoprotein Metabolism Presenting in Childhood....Pages 441-454
Disorders of Isoprenoid/ Cholesterol Synthesis....Pages 455-464
Disorders of Bile Acid Synthesis....Pages 465-475
Disorders of Intracellular Triglyceride and Phospholipid Metabolism....Pages 477-491
Front Matter....Pages 493-493
Disorders of Purine and Pyrimidine Metabolism....Pages 495-513
Disorders of Haem Biosynthesis....Pages 515-527
Front Matter....Pages 529-529
Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc....Pages 531-548
Front Matter....Pages 549-549
Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses....Pages 551-575
Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders....Pages 577-590
Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders....Pages 591-606
Front Matter....Pages 549-549
Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism....Pages 607-622
Cystinosis....Pages 623-629
Front Matter....Pages 631-631
Medications Used in the Treatment of Inborn Errors....Pages 633-641
Back Matter....Pages 643-658