Inborn Metabolic Diseases: Diagnosis and Treatment

Front Matter....Pages I-XV
Front Matter....Pages 1-1
Clinical Approach to Inherited Metabolic Diseases....Pages 3-39
Diagnostic Procedures: Function Tests and Postmortem Protocol....Pages 41-46
Emergency Treatments....Pages 47-55
Psychosocial Care of the Child and Family....Pages 57-67
Front Matter....Pages 69-69
Glycogen Storage Diseases....Pages 71-85
Disorders of Galactose Metabolism....Pages 87-93
Disorders of Fructose Metabolism....Pages 95-99
Disorders of Gluconeogenesis....Pages 101-106
Front Matter....Pages 107-107
The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle....Pages 109-119
The Respiratory Chain....Pages 121-131
Disorders of Fatty Acid Oxidation....Pages 133-143
Front Matter....Pages 145-145
Hyperphenylalaninaemias....Pages 147-160
Tyrosine....Pages 161-166
Urea Cycle Disorders....Pages 167-176
Homocystinuria Due to Cystathionine β -Synthase Deficiency and Related Disorders....Pages 177-182
Ornithine....Pages 183-190
Nonketotic Hyperglycinemia....Pages 191-194
Front Matter....Pages 195-195
Disorders of the Gamma Glutamyl Cycle....Pages 197-200
Disorders of Small Peptides....Pages 201-203
Front Matter....Pages 205-205
Branched-Chain Organic Acidurias....Pages 207-221
Front Matter....Pages 205-205
Ketolysis Defects....Pages 223-228
Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders....Pages 229-236
Front Matter....Pages 237-237
Biotin-Responsive Multiple Carboxylase Deficiency....Pages 239-245
Inherited Disorders of Cobalamin and Folate Absorption and Metabolism....Pages 247-258
Front Matter....Pages 259-259
Dyslipidemias....Pages 261-285
Front Matter....Pages 287-287
Disorders of Purine and Pyrimidine Metabolism....Pages 289-302
Front Matter....Pages 303-303
Disorders of Neurotransmitters....Pages 305-313
Front Matter....Pages 315-315
Copper: Wilson and Menkes Diseases....Pages 317-324
Genetic Defects Related to Metals Other Than Copper....Pages 325-329
Front Matter....Pages 331-331
Porphyrias....Pages 333-340
Inborn Errors of Bile Acid Synthesis....Pages 341-347
Bilirubin....Pages 349-357
Front Matter....Pages 359-359
Alpha-1-Antitrypsin Deficiency....Pages 361-363
Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance....Pages 365-372
Front Matter....Pages 373-373
Sphingolipids....Pages 375-382
Mucopolysaccharides and Oligosaccharides....Pages 383-388
Cystinosis....Pages 389-394
Carbohydrate-Deficient Glycoprotein Syndromes....Pages 395-397
Peroxisomal Disorders....Pages 399-409
Oxalosis (Primary Hyperoxaluria)....Pages 411-414
Front Matter....Pages 415-415
Liver Transplantation....Pages 417-421
Bone Marrow Transplantation....Pages 423-428
Somatic Gene Therapy....Pages 429-437
Back Matter....Pages 439-443