Inborn Metabolic Diseases: Diagnosis and Treatment

Front Matter....Pages I-XII
Front Matter....Pages 1-1
Clinical Approach to Inherited Metabolic Diseases....Pages 3-41
Diagnostic Procedures: Function Tests and Postmortem Protocol....Pages 43-51
Emergency Treatments....Pages 53-61
Psychosocial Care of the Child and Family....Pages 63-74
Treatment: Present Status and New Trends....Pages 75-84
Front Matter....Pages 85-85
The Glycogen-Storage Diseases....Pages 86-101
Disorders of Galactose Metabolism....Pages 102-109
Disorders of Fructose Metabolism....Pages 110-116
Persistent Hyperinsulinemic Hypoglycemia....Pages 118-123
Front Matter....Pages 125-125
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle....Pages 126-138
Disorders of Fatty Acid Oxidation....Pages 140-150
Disorders of Ketogenesis and Ketolysis....Pages 152-156
Defects of the Respiratory Chain....Pages 158-168
Front Matter....Pages 169-169
The Hyperphenylalaninaemias....Pages 170-184
Disorders of Tyrosine Metabolism....Pages 186-194
Branched-Chain Organic Acidurias....Pages 196-212
Disorders of the Urea Cycle....Pages 214-222
Disorders of Sulfur Amino Acid Metabolism....Pages 224-231
Disorders of Ornithine and Creatine Metabolism....Pages 232-240
Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders....Pages 242-253
Front Matter....Pages 169-169
Nonketotic Hyperglycinemia....Pages 254-258
Disorders of Proline and Serine Metabolism....Pages 260-264
Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance....Pages 266-273
Front Matter....Pages 275-275
Biotin-Responsive Multiple Carboxylase Deficiency....Pages 276-282
Disorders of Cobalamin and Folate Transport and Metabolism....Pages 284-298
Front Matter....Pages 299-299
Disorders of Neurotransmission....Pages 300-311
Disorders in the Metabolism of Glutathione and Imidazole Dipeptides....Pages 312-318
Front Matter....Pages 319-320
Dyslipidemias....Pages 321-336
Disorders of Cholesterol Synthesis....Pages 338-342
Disorders of Bile Acid Synthesis....Pages 344-351
Front Matter....Pages 353-353
Disorders of Purine and Pyrimidine Metabolism....Pages 354-368
The Porphyrias....Pages 370-382
Front Matter....Pages 383-383
Copper Transport Disorders: Wilson Disease and Menkes Disease....Pages 384-391
Genetic Defects Related to Metals Other Than Copper....Pages 393-398
Front Matter....Pages 399-399
Disorders of Sphingolipid Metabolism....Pages 400-412
Mucopolysaccharidoses and Oligosaccharidoses....Pages 414-421
Peroxisomal Disorders....Pages 422-431
Congenital Defects of Glycosylation: Disorders of N -Glycan Synthesis....Pages 432-437
Cystinosis....Pages 438-444
Primary Hyperoxalurias....Pages 446-452
Front Matter....Pages 399-399
Leukotriene C 4 -Synthesis Deficiency....Pages 454-457
Back Matter....Pages 459-467